Document Detail

A second family with Micro syndrome.
MedLine Citation:
PMID:  10532171     Owner:  NLM     Status:  MEDLINE    
We present the cases of two sisters, daughters of healthy, non-consanguineous parents, who have a clinical syndrome characterized by microcephaly, cortical dysplasia, ventriculomegaly, hypoplasia of the corpus callosum, hypogenesis of the cerebellar vermis, cataracts, microphthalmia, optic nerve atrophy, retinal coloboma, weight and height below 3rd centile, severe mental retardation, no speech, inability to sit, no sphincter control and a spastic tetraparesis. The facies are mildly dysmorphic, but not distinctive. No metabolic, nor chromosomal anomalies were found. The cases are very similar to, but not identical, to those described by Warburg et al [Am J Med Genet (1993) 147:1309-1312] as Micro syndrome.
G Rodríguez Criado; M Rufo; I Gómez de Terreros
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  8     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  1999 Oct 
Date Detail:
Created Date:  1999-11-16     Completed Date:  1999-11-16     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  241-5     Citation Subset:  IM    
Unidad de Dismorfología, Infantil Universitario Virgen del Rocio, Sevilla, Spain.
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MeSH Terms
Abnormalities, Multiple*
Brain / abnormalities,  radiography
Eye Abnormalities
Mental Retardation
Muscle Hypotonia

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