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Lissencephaly syndrome

Discussion and General Information:

Heredity/Genetic: Lissencephaly I - Gene map locus 17p13.3 (ILS, LIS1, Lissencephaly sequence, isolated; Lissencephaly, classic; SBH; SCLH; Subcortical band heterotopia; Subcortical laminar heterotopia; MDLS)

Lissencephaly, X-linked - Gene map locus Xq22.3-q23 (Double cortex syndrome; LISX; Lissencephaly and agenesis of corpus callosum; Subcortical band heterotopia, X-linked; Subcortical laminar heterotopia, X-linked)

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What is Lissencephaly?

Lissencephaly is a set of rare brain disorders and you will probably find that very few people have heard of it.  Lissencephaly is used as an 'umbrella' term to describe a range of disorders where the whole or parts of the surface of the brain appear smooth. 

The range of disorders include:

You may have also been told that your child may be diagnosed with either agyria or pachygyria - these terms are generally used to describe the degree of brain smoothness and are often included in some of the diagnoses above.

The word lissencephaly is derived from the Greek "lissos" meaning smooth and "encephalos" meaning brain.  The human brain normally has a convoluted surface. In Lissencephaly these convolutions are completely or partially absent from the brain, or areas of it, have a smooth appearance. The convolutions are also called "gyri" and their absence is known as "agyria" (without gyri). In some cases convolutions are present, but thicker and reduced in number and you may hear the term "pachygyria" (broad gyri) being used. The diagnosis is usually made with the help of a CT Scan or MRI Scan of the brain.

* neither SCH or PMG are strictly lissencephaly, but are often included because of the similarity in brain scan appearance (1)

Types: While there are several lissencephaly syndromes, these all fall under the category of either Type I or Type II.  Type I lissencephaly occurs in isolated lissencephaly sequence, in Miller-Dieker syndrome and in a very rare condition called Norman-Roberts syndrome. Type II occurs in Fukuyama syndrome and Walker-Warburg syndrome. Fukuyama syndrome is usually known as Fukuyama congenital muscular dystropy. (2)

Causes: There are probably several causes of lissencephaly. It can be caused by injury to the fetus during development in the womb such as infections, trauma, insufficient blood flow to the brain.  Genetic mutation is another cause.  There have been two genes found to be associated with lissencephaly.  One is on Chromosome 17, named LIS1. The other is on the X chromosome (named XLIS or Doublecortin).

Symptoms and/or complications: Mental retardation, developmental delays, eye abnormalities, muscular dystrophy (difficulty controlling his/her muscles or stiffness or spasticity of arms and legs); seizures; generalized edema and/or lymphedema

Diagnosis:  Initially may be suspected due to developmental delays, spasms, and/or seizures.  Diganostic imaging through use of MRI or CT can confirm the diagnosis.

Treatment:  Treatment depends on the type of lissencephaly, severity and developmental delays or abnormalities. If there are seizures, treament will be needed for that, there may be a need for a feeding tube, a shunt if there is hydrocephalus,  

Prognosis: There is no set prognosis, rather the prognosis depends totaly on the degree of brain malformation and the severity of the lissencephaly.  

Lissencephaly is classified as a Cephalic Disorder. 

Cephalic disorders are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. Cephalic is a term that means "head" or "head end of the body." Congenital means the disorder is present at, and usually before, birth. Although there are many congenital developmental disorders, this fact sheet briefly describes only cephalic conditions.

Cephalic disorders are not necessarily caused by a single factor but may be influenced by hereditary or genetic conditions or by environmental exposures during pregnancy such as medication taken by the mother, maternal infection, or exposure to radiation. Some cephalic disorders occur when the cranial sutures (the fibrous joints that connect the bones of the skull) join prematurely. Most cephalic disorders are caused by a disturbance that occurs very early in the development of the fetal nervous system.(3)

Pat O'Connor

May 30, 2008

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Lissencephaly syndrome

#247200 GeneTests, Links
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS

Alternative titles; symbols

MDS
MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED; MDCR, INCLUDEDGene map locus 17p13.3

TEXT

A number sign (#) is used with this entry because the Miller-Dieker lissencephaly syndrome appears to be caused by deletion of several genes on 17p. Deletion of or mutation in the LIS1 gene (601545) appears to cause the lissencephaly because point mutations have been identified in the disorder isolated lissencephaly sequence (ILS; see 607432). On the other hand, facial dysmorphism and other anomalies in Miller-Dieker patients appear to be the consequence of deletion of additional genes distal to LIS1. Toyo-oka et al. (2003) presented evidence that the gene whose deletion is responsible for the greater severity of Miller-Dieker syndrome compared to isolated lissencephaly is the gene encoding 14-3-3-epsilon (YWHAE; 605066). 30 MEDLINE Neighbors

(The number 247200 was assigned to this entry when it was first created between the fourth (1975) and eighth (1978) editions of Mendelian Inheritance in Man, on the presumption that the disorder was autosomal recessive. It turns out that both isolated lissencephaly sequence and the Miller-Dieker syndrome are due to haploinsufficiency of one or more genes on 17p; they are autosomal dominant disorders.) 30 MEDLINE Neighbors

DESCRIPTION

Miller-Dieker lissencephaly syndrome is a chromosomal microdeletion disorder characterized by microcephaly and a thickened cortex with 4 rather than 6 layers. Lissencephaly means 'smooth brain,' i.e., brain without convolutions or gyri.

CLINICAL FEATURES

Miller (1963) described this condition in a brother and sister who were the fifth and sixth children of unrelated parents. The features were microcephaly, small mandible, bizarre facies, failure to thrive, retarded motor development, dysphagia, decorticate and decerebrate postures, and death at 3 and 4 months, respectively. Autopsy showed anomalies of the brain, kidney, heart, and gastrointestinal tract. The brains were smooth with large ventricles and a histologic architecture more like normal fetal brain of 3 to 4 months' gestation. 30 MEDLINE Neighbors

Dieker et al. (1969) described 2 affected brothers and an affected female maternal first cousin. They also emphasized that this should be termed the lissencephaly syndrome because malformations of the heart, kidneys, and other organs, as well as polydactyly and unusual facial appearance, are associated. 30 MEDLINE Neighbors

Reznik and Alberca-Serrano (1964) described 2 brothers with congenital hypertelorism, mental defect, intractable epilepsy, progressive spastic paraplegia, and death at ages 19 and 9 years. The mother showed hypertelorism and short-lived epileptiform attacks. Autopsy showed lissencephaly with massive neuronal heterotopia, and large ventricular cavities of embryonic type. (The findings in the mother made X-linked recessive inheritance a possibility.) The patients of Reznik and Alberca-Serrano (1964) may have suffered from a disorder distinct from that described by Miller (1963) and Dieker et al. (1969). All patients with the Miller-Dieker syndrome are severely retarded. None learned to speak. They may walk by 3 to 5 years but spastic diplegia with spastic gait is evident. As in other forms of stationary forebrain developmental anomalies, decerebrate posturing with head retraction emerges in the first year of life. In the case of Norman et al. (1976), 3 sibs were affected and the parents were third cousins. 30 MEDLINE Neighbors

Dobyns et al. (1983) stated that the most characteristic finding on computerized tomography is complete failure of opercularization of the frontal and temporal lobes, and that this most likely accounts for bitemporal hollowing. (Opercularization is formation of the parts of the lobes that cover part of the insula.) The form of lissencephaly in the Miller-Dieker syndrome was designated classical or type I lissencephaly by Dobyns et al. (1984). It is characterized by microcephaly and a thickened cortex with 4 rather than 6 layers. (Type II lissencephaly has associated obstructive hydrocephalus and severe brain malformations. It is a major manifestation of the HARD plus/minus-E syndrome (236670). The Walker-Warburg syndrome (236670) is the most frequent form of type II lissencephaly (Dobyns et al., 1988). A third form occurs in the Neu-Laxova syndrome (256520). Dobyns et al. (1984) suggested the designation Norman-Roberts syndrome (see 257320) for the disorder associated with type I lissencephaly but distinct from the Miller-Dieker syndrome. A low, sloped forehead and prominent nasal bridge are distinctive to this condition and chromosomes are normal.) 30 MEDLINE Neighbors

Bordarier et al. (1986) pointed out that agyria was considered a rare malformation until the recent progress in neuroradiology.

Selypes and Laszlo (1988) described the Miller-Dieker syndrome in a 12-year-old boy with a de novo terminal deletion of 17p13. He had growth retardation, microcephaly, ptosis of the left eyelid, low-set ears, prominent philtrum, thin upper lip, clinodactyly of the fifth fingers, and atrial septal defect. Lissencephaly was demonstrated by computerized tomography. MDS is a severe neuronal migration abnormality. 30 MEDLINE Neighbors

Dobyns et al. (1988) found the most consistent features of the facies in MDLS to be bitemporal hollowing, prominent forehead, short nose with upturned nares, prominent upper lip, thin vermilion border of the upper lip, and small jaw. Agenesis of the corpus callosum was demonstrated by computerized tomography in about 90% of cases. The cerebellum was normal in all. Striking midline calcifications were found in most patients with visible chromosomal change. 30 MEDLINE Neighbors

Allanson et al. (1998) reported pattern profiles on 5 children with MDLS and 25 children and adolescents with isolated lissencephaly sequence. The patients with ILS at all ages showed reduced head circumference and a wide and flat face with a broad nose and widely spaced eyes. In the age group of 6 months to 4 years of age, there was similarity between the pattern profiles of ILS and MDLS, with a correlation coefficient of 0.812 (p less than 0.001). In MDLS there are a few distinguishing features, including brachycephaly, a slightly wider face, and a considerably shorter nose. Allanson et al. (1998) concluded that given the striking similarity of the pattern profiles, the principal diagnostic discriminators are qualitative features, specifically the tall, furrowed forehead and the long, broad thickened upper lip in MDLS. They also concluded that their observations were consistent with the concept of additional gene(s) telomeric to LIS1 contributing to the facial phenotype of MDLS. 30 MEDLINE Neighbors

CYTOGENETICS

Dobyns et al. (1983) found a ring chromosome 17 in 1 patient and were prompted to study 2 other cases. They found partial monosomy of 17p13 in one of these. A review of the literature uncovered abnormality of 17p in 5 other patients in 3 families. Sharief et al. (1991) reported a case of MDS associated with ring chromosome 17. 30 MEDLINE Neighbors

Ledbetter (1983) studied the parents of the patients reported by Miller (1963), Dieker et al. (1969), and Norman et al. (1976). The father of Miller's sibs had a 15q;17p translocation; the father of Dieker's patients 1 and 3 had a 12q;17p translocation and both parents of Norman's patient had normal karyotypes. An autosomal recessive form of lissencephaly is suggested also by the parental consanguinity in Norman's case. 30 MEDLINE Neighbors

Stratton et al. (1984) further narrowed the monosomy to 17p13.3. They also reported prenatal diagnosis. In a patient with MDS and no cytogenetically detectable deletion, vanTuinen and Ledbetter (1987) found evidence of deletion by use of a DNA marker located at 17p13.3. Greenberg et al. (1986) described a family in which the mother had a pericentric inversion of chromosome 17 and 2 of her children had MDS. One of them was shown to carry a recombinant 17 consisting of dup(17q) and del(17p). The patient described by Selypes and Laszlo (1988) had a de novo terminal deletion of 17p13. 30 MEDLINE Neighbors

Bordarier et al. (1986) reported anatomoclinical observations on a case of partial deletion of 17p. Golgi stains showed many inverted pyramidal cells in the superficial part of the cortex.

Dhellemmes et al. (1988) found a microdeletion of 17p in 1 of 12 cases with lissencephaly. They subscribed to the 4-way classification of lissencephalies proposed by Dobyns et al. (1984): the Miller-Dieker syndrome with abnormality of chromosome 17; the Miller-Dieker syndrome without evident abnormality of chromosome 17; a disorder with manifestations unlike those of the Miller-Dieker syndrome but with familial occurrence and normal chromosomes (Norman-Roberts syndrome); and a form without characteristic facial dysmorphism and without familial occurrence. In the study of Dhellemmes et al. (1988), 1 patient was in category 1 and the other 11 were in category 4. 30 MEDLINE Neighbors

Dobyns et al. (1991) reviewed the results of their clinical, cytogenetic, and molecular studies in 27 patients with MDS from 25 families. All had severe type I lissencephaly with grossly normal cerebellum and a distinctive facial appearance consisting of prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw. Chromosome analysis showed deletion of band 17p13 in 14 of 25 MDS probands. Studies using probes from the 17p13.3 region detected deletions in 19 of 25 probands tested, including 7 in whom chromosome analysis was normal. When the cytogenetic and molecular data were combined, deletions were detected in 21 of 25 probands. Of the 11 patients in whom parental origin of the de novo deletion was determined, paternal origin was demonstrated in 7 and maternal origin in 4. 30 MEDLINE Neighbors

De Rijk-van Andel et al. (1991) identified a submicroscopic deletion of 2 DNA markers located at 17p13 in a patient with isolated grade 3 lissencephaly. The findings suggested that MDS and isolated lissencephaly have a common etiology.

About 90% of MDS patients have visible or submicroscopic deletions of 17p13.3; Ledbetter et al. (1992) investigated the possibility that some patients with 'isolated lissencephaly sequence' (ILS) had smaller deletions in that chromosomal region. Their studies uncovered 6 submicroscopic deletions in 45 ILS patients with gyral abnormalities ranging from complete agyria to mixed agyria/pachygyria and complete pachygyria. In situ hybridization proved to be the most rapid and sensitive method of deletion detection. The centromeric boundary of these deletions overlapped that of MDS patients, while the telomeric boundary for 4 of them was proximal to that of MDS. 30 MEDLINE Neighbors

Oostra et al. (1991) studied 5 patients with MDS, 17 patients with isolated lissencephaly sequence, 1 patient with an unclassified form of lissencephaly, and 9 patients with an atypical cortical dysplasia. All patients had normal chromosomes except for a deletion of 17p13.3 in 1 of the 5 MDS patients. The 5 MDS patients showed deletion of markers YNZ22.1 and YNH37.3. Dobyns et al. (1993) reviewed the clinical phenotype, pathologic changes, and results of cytogenetic and molecular genetic studies in 90 probands with lissencephaly, with emphasis on patients with the classic form (type I). 30 MEDLINE Neighbors

A cryptic translocation in one of the parents of MDS patients had been found using fluorescence in situ hybridization (FISH) (Kuwano et al., 1991). Masuno et al. (1995) described a patient with MDS and a maternal cryptic translocation. Kingston et al. (1996) described a boy who, in addition to lissencephaly and facial features of MDS, had rhizomelic shortening of the limbs, cleft palate, hypospadias, and sacral tail. Banded chromosome analysis did not reveal any abnormality of chromosome 17. FISH studies with the alpha satellite probe D17Z1 and 3 overlapping cosmids from the MDS critical region showed that his mother and grandmother carried a balanced inv(17)(p13.3q25.1). The proband's karyotype was 46,XY,rec(17),dup q,inv(17)(p13.3q25.1)mat. Additional manifestations in the proband were due to distal 17q trisomy. Masuno et al. (1995) and Kingston et al. (1996) stated that FISH analysis is crucial to exclude subtle rearrangements in affected children and their parents. 30 MEDLINE Neighbors

MAPPING

VanTuinen et al. (1988) found that the genes for myosin heavy chain-2 (160740), tumor antigen p53, and RNA polymerase II (180660), previously mapped to 17p, are not included in the MDS deletion region and therefore are unlikely to play a role in its pathogenesis.

MOLECULAR GENETICS

Ledbetter et al. (1988) described 2 variable number tandem repeat (VNTR) probes that revealed a 15-kb region containing HTF islands that are likely to be markers of expressed sequences. Use of these probes showed homology to chromosome 11 in the mouse. Because of the close location of MDCR to tumor antigen p53 (TP53; 191170) and MYHSA1 (160730) in man, the homologous locus in the mouse is probably close to the corresponding loci in that species. Several neurologic mutants in the mouse map to that region. 30 MEDLINE Neighbors

In 2 MDS patients with normal chromosomes, a combination of somatic cell hybrid, RFLP, and densitometric studies demonstrated deletion of polymorphic anonymous probes in the paternally derived chromosome 17 (VanTuinen et al., 1988). This demonstration of submicroscopic deletion suggests that all MDS patients may have deletions at the molecular level. In an addendum, the authors stated that 3 additional MDS patients without cytogenetically detectable deletions had been found to have molecular deletions and that 'to date' 13 of 13 MDS patients had molecular deletions. Using anonymous probes, Schwartz et al. (1988) likewise found molecular deletions in 3 MDS patients, 2 of whom had no visible abnormalities of chromosome 17. None of the 3 RFLP loci studied was absent in a case of lissencephaly without MDS. 30 MEDLINE Neighbors

Ledbetter et al. (1989) found that in all of 7 patients 3 overlapping cosmids spanning more than 100 kb were completely deleted, thus providing a minimum estimate of the size of the MDS critical region. A hypomethylated island and evolutionarily conserved sequences were identified within this 100-kb region--indications of the presence of one or more expressed sequences potentially involved in the pathophysiology of this disorder. 30 MEDLINE Neighbors

Reiner et al. (1993) cloned a gene called LIS1 (lissencephaly-1) in 17p13.3 that is deleted in Miller-Dieker patients. Nonoverlapping deletions involving either the 5-prime or the 3-prime end of the gene were found in 2 patients, identifying LIS1 as the disease gene. The deduced amino acid sequence showed significant homology to beta subunits of heterotrimeric G proteins, suggesting that it may be involved in a signal transduction pathway crucial for cerebral development. Since haploinsufficiency appears to lead to the syndrome, half the normal dosage of the gene product is apparently inadequate for normal development. It may be that improper proportions of beta and gamma subunits of a G protein disturb formation of the normal protein complex, as in hemoglobin H disease, which is caused by an imbalance in the ratio of alpha- to beta-globin. About 15% of patients with isolated lissencephaly and more than 90% of patients with Miller-Dieker syndrome have microdeletions in a critical 350-kb region of 17p13.3. Genotype/phenotype studies are necessary to explain the phenotypic differences. Neer et al. (1993) commented on the nature of the newly found gene and the usefulness of identifying families of genes and the proteins they encode. 30 MEDLINE Neighbors

Platelet-activating factor (PAF) is involved in a variety of biologic and pathologic processes (Hanahan, 1986). PAF acetylhydrolase, which inactivates PAF by removing the acetyl group at the sn-2 position, is widely distributed in plasma and tissue cytosols. One isoform of PAF acetylhydrolase present in bovine brain cortex is a heterotrimer comprising subunits with relative molecular masses of 45, 30, and 29 kD (Hattori et al., 1993). Hattori et al. (1994) isolated the cDNA for the 45-kD subunit. Sequence analysis revealed 99% identity with the LIS1 gene, indicating that the LIS1 gene product is a human homolog of the 45-kD subunit of intracellular PAF acetylhydrolase. The results raised the possibility that PAF and PAF acetylhydrolase are important in the formation of the brain cortex during differentiation and development. 30 MEDLINE Neighbors

Kohler et al. (1995) searched for microdeletions in 17p13.3 in 5 patients with lissencephaly-1, typical features of Miller-Dieker syndrome and apparently normal karyotypes. Analysis of loci D17S5 and D17S379 by PCR and FISH revealed a deletion in 3 of the 5 cases. No deletion was observed in the other 2. Given the almost identical clinical picture of the 5 patients, the great variation in the molecular findings argued against Miller-Dieker syndrome being a contiguous gene syndrome. 30 MEDLINE Neighbors

Chong et al. (1996) characterized the LIS1 gene (601545), demonstrating the presence of 11 exons. SSCP analysis of individual exons was performed on 18 patients with isolated lissencephaly sequence (ILS; see 607432) who showed no deletions detectable by FISH. In 3 of these patients, point mutations were identified: a missense mutation, a nonsense mutation, and a 22-bp deletion at the exon 9-intron 9 junction predicted to result in a splicing error. The findings confirmed the view that mutations of LIS1 are the cause of the lissencephaly phenotype in ILS and in the Miller-Dieker syndrome. Together with the results of deletion analysis for other ILS and Miller-Dieker syndrome patients, these data are also consistent with the previous suggestion that additional genes distal to LIS1 are responsible for the facial dysmorphism and other anomalies in MDS patients. 30 MEDLINE Neighbors

Cardoso et al. (2003) completed a physical and transcriptional map of the chromosome 17p13.3 region from LIS1 to the telomere. Using FISH, Cardoso et al. (2003) mapped the deletion size in 19 children with ILS (607432), 11 children with MDS, and 4 children with 17p13.3 deletions not involving LIS1. Cardoso et al. (2003) showed that the critical region that differentiates ILS from MDS at the molecular level can be reduced to 400 kb. Using somatic cell hybrids from selected patients, Cardoso et al. (2003) identified 8 genes that are consistently deleted in patients classified as having MDS. These genes include ABR (600365), 14-3-3-epsilon (605066), CRK (164762), MYO1C (606538), SKIP (603055), PITPNA (600174), SCARF1, RILP, PRP8 (607300), and SERPINF1 (172860). In addition, deletion of the genes CRK and 14-3-3-epsilon delineates patients with the most severe lissencephaly grade. On the basis of recent functional data and the creation of a mouse model suggesting a role for 14-3-3-epsilon in cortical development, Cardoso et al. (2003) suggested that deletion of 1 or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with Miller-Dieker syndrome. 30 MEDLINE Neighbors

DIAGNOSIS

For rapid diagnosis, Batanian et al. (1990) used PCR in connection with probe YNZ22 (D17S5), a highly polymorphic, variable number tandem repeat (VNTR) marker previously shown to be deleted in all patients with MDS, but not in patients with isolated lissencephaly sequence. Analysis of 118 normal persons revealed 12 alleles (differing in copy number of a 70-bp repeat unit) ranging in size from 168 to 938 bp. 30 MEDLINE Neighbors

Pollin et al. (1999) evaluated the risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the MDS critical region in 17p13.3. Fourteen families were ascertained on the basis of an affected index case. In these 14 families, 38 balanced translocation carriers had 127 pregnancies, corrected for ascertainment bias by the exclusion of all index cases and carriers in the line of descent to the index cases. An abnormal phenotype, an unbalanced chromosome constitution, or both, were found in 33 of the 127 (26%) pregnancies: 15 of 127 (12%) had MDS and an unbalanced karyotype with del(17p); 9 of 127 (7%) had a less severe phenotype with dup(17p); and 9 were unstudied, although MDS with der(17) was usually suspected based on early death and multiple congenital anomalies. When unexplained pregnancy losses, including miscarriages and stillbirths, were excluded from the total, 33 of 99 (33%) pregnancies were phenotypically or genotypically abnormal. The overall risk of abnormal pregnancy outcome of 26% was in the upper range of the reported risk for unbalanced offspring of carrier parents ascertained through liveborn aneuploid offspring. The risk increased to 33% when unexplained pregnancy losses were excluded from the total. 30 MEDLINE Neighbors

ANIMAL MODEL

The condition of so-called inverted pyramids is observed in the 'reeler' mutation in mice (Landrieu and Goffinet, 1981). The 'reeler' mutation (re) is located on mouse chromosome 5, a chromosome that carries no gene known thus far to be homologous to a gene on human chromosome 17. Thus, there is no support from homology of synteny for the notion that agyria in man is the same as 'reeler' in the mouse. 30 MEDLINE Neighbors

The conserved sequences identified by Ledbetter et al. (1989) were mapped to mouse chromosome 11 by using mouse-rat somatic cell hybrids, thus extending the remarkable homology between human chromosome 17 and mouse chromosome 11 by 30 cM, into the 17p telomere region.

Yingling et al. (2003) discussed the prospects of using the mouse to model Miller-Dieker syndrome. Null and conditional knockout alleles in the mouse had been generated for Lis1 and Mnt (603039), and null alleles had been produced for Hic1 (603825) and 14-3-3-epsilon. For Lis1 and Pitpn (600174), hypomorphic alleles also existed. 30 MEDLINE Neighbors

SEE ALSO

Garcia et al. (1978)

REFERENCES

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Classical lissencephaly syndromes: does the face reflect the brain? J. Med. Genet. 35: 920-923, 1998.
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Rapid diagnosis of Miller- Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction. Hum. Genet. 85: 555-559, 1990.
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Point mutations and an intragenic deletion in three ILS patients confirm LIS1 as the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. (Abstract) Am. J. Hum. Genet. 59 (suppl.): A23 only, 1996.
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PubMed ID : 7634541
21. Kuwano, A.; Ledbetter, S. A.; Dobyns, W. B.; Emanuel, B. S.; Ledbetter, D. H. :
Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am. J. Hum. Genet. 49: 707-714, 1991.
PubMed ID : 1897521
22. Landrieu, P.; Goffinet, A. :
Inverted pyramidal neurons and their axons in the neocortex of reeler mutant mice. Cell Tissue Res. 218: 293-301, 1981.
PubMed ID : 6167365
23. Ledbetter, D. H. :
Personal Communication. Houston, Texas, 5/27/1983.
24. Ledbetter, D. H.; Ledbetter, S. A.; vanTuinen, P.; Summers, K. M.; Nakamura, Y. :
Two VNTR probes reveal HTF islands and conserved sequences in a microdeletion syndrome. (Abstract) Am. J. Hum. Genet. 43: A111, 1988.
25. Ledbetter, D. H.; Ledbetter, S. A.; vanTuinen, P.; Summers, K. M.; Robinson, T. J.; Nakamura, Y.; Wolff, R.; White, R.; Barker, D. F.; Wallace, M. R.; Collins, F. S.; Dobyns, W. B. :
Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated 'island' in the Miller-Dieker chromosome region. Proc. Nat. Acad. Sci. 86: 5136-5140, 1989.
PubMed ID : 2740347
26. Ledbetter, S. A.; Kuwano, A.; Dobyns, W. B.; Ledbetter, D. H. :
Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am. J. Hum. Genet. 59: 182-189, 1992.
27. Masuno, M.; Imaizumi, K.; Nakamura, M.; Matsui, K.; Goto, A.; Kuroki, Y. :
Miller-Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3). Am. J. Med. Genet. 59: 441-443, 1995.PubMed ID : 8585563
28. Miller, J. Q. :
Lissencephaly in 2 siblings. Neurology 13: 841-850, 1963.
PubMed ID : 14066999
29. Neer, E. J.; Schmidt, C. J.; Smith, T. :
LIS is more. Nature Genet. 5: 3-4, 1993.
PubMed ID : 8220419
30. Norman, M. G.; Roberts, M.; Sirois, J.; Tremblay, L. J. M. :
Lissencephaly. Canad. J. Neurol. Sci. 3: 39-46, 1976.
PubMed ID : 175907
31. Oostra, B. A.; de Rijk-van Andel, J. F.; Eussen, H. J.; van Hemel, J. O.; Halley, D. J. J.; Niermeijer, M. F. :
DNA analysis in patients with lissencephaly type I and other cortical dysplasias. Am. J. Med. Genet. 40: 383-386, 1991.
PubMed ID : 1951447
32. Pollin, T. I.; Dobyns, W. B.; Crowe, C. A.; Ledbetter, D. H.; Bailey-Wilson, J. E.; Smith, A. C. M. :
Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3. Am. J. Med. Genet. 85: 369-375, 1999.
PubMed ID : 10398263
33. Reiner, O.; Carrozzo, R.; Shen, Y.; Wehnert, M.; Faustinella, F.; Dobyns, W. B.; Caskey, C. T.; Ledbetter, D. H. :
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 364: 717-721, 1993.
PubMed ID : 8355785
34. Reznik, M.; Alberca-Serrano, R. :
Forme familiale d'hypertelorisme avec lissencephalie se presentant cliniquement sous forme d'une arrieration mentale avec epilepsie et paraplegie spasmodique. J. Neurol. Sci. 1: 40-58, 1964.
35. Schwartz, C. E.; Johnson, J. P.; Holycross, B.; Mandeville, T. M.; Sears, T. S.; Graul, E. A.; Carey, J. C.; Schroer, R. J.; Phelan, M. C.; Szollar, J.; Flannery, D. B.; Stevenson, R. E. :
Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome. Am. J. Hum. Genet. 43: 597-604, 1988.
PubMed ID : 2903661
36. Selypes, A.; Laszlo, A. :
Miller-Dieker syndrome and monosomy 17p13: a new case. Hum. Genet. 80: 103-104, 1988.
PubMed ID : 3417298
37. Sharief, N.; Craze, J.; Summers, D.; Butler, L.; Wood, C. B. S. :
Miller-Dieker syndrome with ring chromosome 17. Arch. Dis. Child. 66: 710-712, 1991.
PubMed ID : 1711306
38. Stratton, R. F.; Dobyns, W. B.; Airhart, S. D.; Ledbetter, D. H. :
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum. Genet. 67: 193-200, 1984.
PubMed ID : 6745939
39. Toyo-oka, K.; Shionoya, A.; Gambello, M. J.; Cardoso, C.; Leventer, R.; Ward, H. L.; Ayala, R.; Tsai, L.-H.; Dobyns, W.; Ledbetter, D.; Hirotsune, S.; Wynshaw-Boris, A. :
14-3-3-epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nature Genet. 34: 274-285, 2003.
PubMed ID : 12796778
40. vanTuinen, P.; Dobyns, W. B.; Rich, D. C.; Summers, K. M.; Robinson, T. J.; Nakamura, Y.; Ledbetter, D. H. :
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. Am. J. Hum. Genet. 43: 587-596, 1988.
PubMed ID : 3189330
41. vanTuinen, P.; Ledbetter, D. H. :
Construction and utilization of a detailed somatic cell hybrid mapping panel for human chromosome 17: localization of an anonymous clone to the critical region of Miller-Dieker syndrome, deletion 17p13. (Abstract) Cytogenet. Cell Genet. 46: 708-709, 1987.
42. Yingling, J.; Toyo-oka, K.; Wynshaw-Boris, A. :
Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse. Am. J. Hum. Genet. 73: 475-488, 2003.
PubMed ID : 12905154

CONTRIBUTORS

Victor A. McKusick - updated : 10/13/2003
Victor A. McKusick - updated : 6/9/2003
Ada Hamosh - updated : 5/9/2003
Victor A. McKusick - updated : 8/31/1999
Michael J. Wright - updated : 2/12/1999
Iosif W. Lurie - updated : 8/6/1996

CREATION DATE

Victor A. McKusick : 6/3/1986

http://omim.org/entry/247200

.......................

Lissencephaly

Synonyms of Lissencephaly

Disorder Subdivisions

General Discussion
Classical lissencephaly, also known as lissencephaly type I, is a brain malformation that may occur as an isolated abnormality (isolated lissencephaly sequence [ILS]) or in association with certain underlying syndromes (e.g., Miller-Dieker syndrome, Norman-Roberts syndrome). The condition is characterized by absence (agyria) or incomplete development (pachygyria) of the ridges or convolutions (gyri) of the outer region of the brain (cerebral cortex), causing the brain's surface to appear unusually smooth.

In infants with classical lissencephaly, the head circumference may be smaller than would otherwise be expected (microcephaly). Additional abnormalities may include sudden episodes of uncontrolled electrical activity in the brain (seizures), severe or profound mental retardation, feeding difficulties, growth retardation, and impaired motor abilities. If an underlying syndrome is present, there may be additional symptoms and physical findings.

Researchers indicate that there may be various possible causes of isolated lissencephaly, including viral infections or insufficient blood flow to the brain during fetal development or certain genetic factors. Changes (mutations) of at least two different genes have been implicated in isolated lissencephaly: a gene located on chromosome 17 (known as LIS1) and a gene located on the X-chromosome (known as XLIS or Doublecortin).
.

Organizations related to Lissencephaly

http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Lissencephaly

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Miller-Dieker lissencephaly syndrome (MDLS)

Syndrome Miller-Dieker syndrome (MDS)
Synonyms Miller-Dieker lissencephaly syndrome (MDLS)
agyria syndrome
agyria-pachygyria syndrome
classical lissencephaly
hydrocephalic lissencephaly, is a major feature of
Summary A developmental defect of the brain caused by incomplete neuronal migration and characterized by smoothness of the surface of the brain (lissencephaly) occurring in association with absence of the sulci and gyri (agyria) and thickening of the cerebral cortex with four rather than six layers (pachygyria), microcephaly, characteristic facial appearance, retarded growth and mental development, neurological complications, and multiple abnormalities of the brain, kidneys, heart, gastrointestinal tract, and other organs. Lissencephaly, once considered as synonymous with Walker-Warburg syndrome and Norman-Roberts syndrome, is now recognized as a component of several other syndromes. Type I (the classical form) is a component of Miller-Dieker and Norman-Roberts syndromes, also occurring as a separate entity; Type II the Walker-Warburg and muscle-eye-brain syndrome, also occurring in the Neu-Laxova syndrome.
Major Features Head and neck: Microcephaly, prominent forehead, bitemporal hollowing, and micrognathia.
Ears: Malpositioned and/or malformed ears.
Eyes: Abnormal irides, tortuous fundal vessels, telecanthus, hypertelorism, and mild blepharoptosis,
Nose: Short nose with upturned nares and low nasal bridge.
Mouth and oral structures: Long and thin the upper lip and late tooth eruption.
Hand and foot: Clinodactyly, camptodactyly, and dermatoglyphic abnormal abnormalities consisting of irregular palmar creases.
Muscles: Early hypotonia with subsequent hypertonia.
Nervous system: Lissencephaly type I and agyria with or without regional thickening of the cerebral cortex (pachygyria); hypoplasia of the pontine nuclei and inferior olives; olivary heterotopia; and occasional small cerebellum, hypoplasia of the corpus callosum, dysplasia of the cerebral cortex structures, and midline calcification. Epilepsy and spastic paraplegia may be associated.
Cardiovascular system: Cardiovascular defects vary and may include patent ductus arteriosus and ventricular septal defect.
Urogenital system: Cryptorchidism, pilonidal sinus, kidney agenesis, and hydronephrosis are the most common anomalies.
Temporal features: Death in infancy or childhood.
Growth and development: Growth, mental, speech, and motor retardation. Polyhydramnios and decreased fetal movement may complicate prenatal development.
Behavior and performance: Failure to thrive, decreased spontaneous activity, seizures, and feeding difficulty.
Heredity: Transmitted as an autosomal recessive trait. Normal chromosomes are present in some cases but other are associated with chromosomal abnormalities which include deletion of the short arm of chromosome 17 (17p13.3, deletion of the short arm in association with duplication of the long arm of chromosome 17, ring chromosome l7, and 12q;17p translocation.

http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome456.html

===========================

References:

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The Lissencephaly Contact Group   (1)

The Lissencephaly Network (2)

Cephalic Disorders Fact Sheet - NIH (3)

===========================

Abstracts and Clinical Studies

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Analysis of the clinical manifestations and magnetic resonance imaging features of 11 patients with lissencephaly May 2011

http://search3.comcast.com/?cat=dnsr&con=ds&url=www.j-smu.com

Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities. May 2011 

http://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.2011.03937.x/abstract


Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly. Feb 2011

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3037170/?tool=pubmed


see also:

Molecular genetics of lissencephaly and microcephaly - April 2008

Molecular mechanism of lissencephaly--how LIS1 and NDEL1 regulate cytoplasmic dynein - April 2008

High frequency of genomic deletions and duplication in the LIS1 gene in lissencephaly: implications for molecular diagnosis - Feb 2008

Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly - Dec 2007

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). - Nov 2007

Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development - Oct 2007

Molecular heterogeneity in fetal forms of type II lissencephaly -Oct 2007

Genetic and clinical aspects of lissencephaly - May 2007

http://www.em-consulte.com/article/105911

IInactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation. - April 2007

Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome - April 2007

Lissencephaly syndrome - Norman Roberts Type

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=89844

===========================

External Links Information:

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The Lissencephaly Launch Pad

http://homepage.ntlworld.com/foliot/liss/

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The Lissencephaly Book Shop

http://homepage.ntlworld.com/foliot/liss/lissbooks.htm

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Classical Lissencephaly Syndromes

http://www.lissencephaly.org/medical/info/classlis.htm

.......................

NINDS Lissencephaly Information Page

http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm

===========================

Support Groups:

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Lissencephaly Network - Support

http://www.lissencephaly.org/

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England - United Kingdom 
The Lissencephaly Contact Group
http://www.webarchive.org.uk/ukwa/target/117431/source/subject

   info@lissencephaly.org.uk
  Mrs. Nayyer Ahmed:  Telephone: 01562 851429 (outside the UK + 44 1562 851429)

.......................

Austrailia
Lissencephaly Network Australia
Contact: Mrs Debbie Tuivawa
76 Whitaker Street
Guildford 2161 NSW Australia
  (02) 9632 5914

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Online Support Group

Lissencephaly

http://health.groups.yahoo.com/group/lissencephaly/

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Online Support Group

Miller-Dieker Lissencephaly

http://health.groups.yahoo.com/group/millerdieker/

===========================

Codes and External Resources:

ICD-10

Q04.3 Other reduction deformities of brain
Absence
Agenesis
Aplasia
Hypoplasia
}
}
}
}
of part of brain
Agyria
Hydranencephaly
Lissencephaly
Microgyria
Pachygyria
Excludes: congenital malformations of corpus callosum ( Q04.0 )

ICD-9

2008 ICD-9-CM Diagnosis 742.2

Congenital reduction deformities of brain

  • Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe MENTAL RETARDATION; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of mental retardation. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild mental retardation to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
  • 742.2 is a specific code that can be used to specify a diagnosis
  • 742.2 contains 30 index entries
  • View the ICD-9-CM Volume 1 742.* hierarchy

742.2 also known as:

  • Absence of part of brain
  • Agenesis of part of brain
  • Agyria
  • Aplasia of part of brain
  • Arhinencephaly
  • Holoprosencephaly
  • Hypoplasia of part of brain
  • Microgyria

OMIM #247200 - Miller-Dieker lissencephaly syndrome (MDLS)

http://omim.org/entry/247200

OMIM  #257320 - Lissencephaly Syndrome, Nortman-Robrts Type

http://omim.org/entry/257320

OMIM #607432 - Lissencephaly 1; LIS1

http://omim.org/entry/607432

OMIM #601545 - Platelet-Acitivating Factor Acetyhydrolase, Isoform 1B, Alpha Subunit

http://omim.org/entry/601545

OMIM #300121 - Doublecortin; DCX

http://omim.org/entry/300121

OMIM #300382 - Lissencephaly X-linked with agenesis of the corpus callosum (ARX gene)

http://omim.org/entry/300382

OMIM #257320 - Lissencephaly with cerebellar hypoplasia including Norman Roberts Syndrome (mutation of reelin gene)

http://omim.org/entry/257320

OMIM #236670 - Walker-Warburg Syndrome (also called HARD(E) syndrome)

http://omim.org/entry/236670

OMIM #253800 - Fukuyama Congenital Muscular Dystrophy; FCMD (see also Fukuyama congenital muscular dystrophy)

http://omim.org/entry/253800

OMIM #253280 - Muscle-Eye-Brain (MEB) disease

http://omim.org/entry/253280

OMIM Gene Map

http://omim.org/search?index=geneMap&search=247200

===========================

Join us as we work for lymphedema patients everywhere:

Advocates for Lymphedema

Dedicated to be an advocacy group for lymphedema patients. Working towards education, legal reform, changing insurance practices, promoting research, reaching for a cure.

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Subscribe: AdvocatesforLymphedema-subscribe@yahoogroups.com

Pat O'Connor

Lymphedema People / Advocates for Lymphedema

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For information on Lymphedema in Children

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Lymphedema Glossary

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Lymphedema People - Support Groups

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Children with Lymphedema

The time has come for families, parents, caregivers to have a support group of their own. Support group for parents, families and caregivers of chilren with lymphedema. Sharing information on coping, diagnosis, treatment and prognosis. Sponsored by Lymphedema People.

http://health.groups.yahoo.com/group/childrenwithlymphedema/

Subscribe: childrenwithlymphedema-subscribe@yahoogroups.com

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Lipedema Lipodema Lipoedema

No matter how you spell it, this is another very little understood and totally frustrating conditions out there. This will be a support group for those suffering with lipedema/lipodema. A place for information, sharing experiences, exploring treatment options and coping.

Come join, be a part of the family!

http://health.groups.yahoo.com/group/lipedema_lipodema_lipoedema/?yguid=209645515

Subscribe: lipedema_lipodema_lipoedema-subscribe@yahoogroups.com

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MEN WITH LYMPHEDEMA

If you are a man with lymphedema; a man with a loved one with lymphedema who you are trying to help and understand come join us and discover what it is to be the master instead of the sufferer of lymphedema.

http://health.groups.yahoo.com/group/menwithlymphedema/

Subscribe: menwithlymphedema-subscribe@yahoogroups.com

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All About Lymphangiectasia

Support group for parents, patients, children who suffer from all forms of lymphangiectasia. This condition is caused by dilation of the lymphatics. It can affect the intestinal tract, lungs and other critical body areas.

http://health.groups.yahoo.com/group/allaboutlymphangiectasia/

Subscribe: allaboutlymphangiectasia-subscribe@yahoogroups.com

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Lymphatic Disorders Support Group @ Yahoo Groups

While we have a number of support groups for lymphedema... there is nothing out there for other lymphatic disorders. Because we have one of the most comprehensive information sites on all lymphatic disorders, I thought perhaps, it is time that one be offered.

DISCRIPTION

Information and support for rare and unusual disorders affecting the lymph system. Includes lymphangiomas, lymphatic malformations, telangiectasia, hennekam's syndrome, distichiasis, Figueroa
syndrome, ptosis syndrome, plus many more. Extensive database of information available through sister site Lymphedema People.

http://health.groups.yahoo.com/group/lymphaticdisorders/

Subscribe: lymphaticdisorders-subscribe@yahoogroups.com

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Lymphedema People New Wiki Pages

Have you seen our new “Wiki” pages yet?  Listed below are just a sample of the more than 140 pages now listed in our Wiki section. We are also working on hundred more.  Come and take a stroll! 

Lymphedema Glossary 

http://www.lymphedemapeople.com/wiki/doku.php?id=glossary:listing 

Lymphedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema 

Arm Lymphedema  

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Leg Lymphedema 

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Acute Lymphedema 

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The Lymphedema Diet 

http://www.lymphedemapeople.com/wiki/doku.php?id=the_lymphedema_diet 

Exercises for Lymphedema  

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Diuretics are not for Lymphedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=diuretics_are_not_for_lymphedema 

Lymphedema People Online Support Groups 

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_people_online_support_groups 

Lipedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=lipedema 

Treatment 

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Lymphedema and Pain Management 

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_and_pain_management 

Manual Lymphatic Drainage (MLD) and Complex Decongestive Therapy (CDT)

http://www.lymphedemapeople.com/wiki/doku.php?id=manual_lymphatic_drainage_mld_complex_decongestive_therapy_cdt 

Infections Associated with Lymphedema 

http://www.lymphedemapeople.com/wiki/doku.php?id=infections_associated_with_lymphedema 

How to Treat a Lymphedema Wound 

http://www.lymphedemapeople.com/wiki/doku.php?id=how_to_treat_a_lymphedema_wound 

Fungal Infections Associated with Lymphe dema 

http://www.lymphedemapeople.com/wiki/doku.php?id=fungal_infections_associated_with_lymphedema 

Lymphedema in Children 

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_in_children 

Lymphoscintigraphy 

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphoscintigraphy 

Magnetic Resonance Imaging 

http://www.lymphedemapeople.com/wiki/doku.php?id=magnetic_resonance_imaging 

Extraperitoneal para-aortic lymph node dissection (EPLND) 

http://www.lymphedemapeople.com/wiki/doku.php?id=extraperitoneal_para-aortic_lymph_node_dissection_eplnd 

Axillary node biopsy 

http://www.lymphedemapeople.com/wiki/doku.php?id=axillary_node_biopsy

Sentinel Node Biopsy 

http://www.lymphedemapeople.com/wiki/doku.php?id=sentinel_node_biopsy

Small Needle Biopsy - Fine Needle Aspiration 

http://www.lymphedemapeople.com/wiki/doku.php?id=small_needle_biopsy 

Magnetic Resonance Imaging 

http://www.lymphedemapeople.com/wiki/doku.php?id=magnetic_resonance_imaging 

Lymphedema Gene FOXC2

 http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_gene_foxc2

 Lymphedema Gene VEGFC

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_gene_vegfc

 Lymphedema Gene SOX18

 http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_gene_sox18

 Lymphedema and Pregnancy

http://www.lymphedemapeople.com/wiki/doku.php?id=lymphedema_and_pregnancy

Home page: Lymphedema People

http://www.lymphedemapeople.com

Page Updated: Dec. 23, 2011