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Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
Neurol 49:1042-1047, Dobyns,W.B.,et al, 1997
See this aricle in Pubmed

Article Abstract
Bilateral periventricular nodular heterotopia(BPNH)is a recently recognized malformation of neuronal migration and perhaps proliferation in which nodular masses of gray matter line the walls of the lateral ventricles.Most affected individuals have epilepsy and normal intelligence with no other congenital abnormalities.A striking skew of the sex ratio has been observed because 31 of 38 probands have been female,and one gene associated with BPNH was recently mapped to chromosome Xq28.We report three unrelated boys with a new multiple congenital anomaly-mental retardation syndrome that consists of BPNH,cerebellar hypoplasia,severe mental retardation,epilepsy and syndactyly.Variable abnormalities included focal or regional cortical dysplasia,cataracts,and hypospadius.We hypothesize that this syndrome involves the same Xq28 locus as isolated BPNH and we review the expanding number of syndromes associated with BPNH.
 
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cataracts
cerebellar hypoplasia
chromosome 28
clinodactyly
congenital malformation
corpus callosum,hypoplastic
digits,abnormal
ear,abnormal
heterotopia
mental retardation
MRI
MRI,abnormal
neuronal migration disorder
paroxysmal nonkinesigenic dyskinesia
seizure
syndactyly
x-linked mental retardation

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