Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs.
This study concerns an apparently lethal and previously undescribed syndrome of hypoplastic corpus callosum, microcephaly, severe mental retardation, preauricular skin tag, camptodactyly, growth retardation, and recurrent bronchopneumonia. This combination of anomalies is probably inherited as an autosomal recessive trait. A brief literature review of the anomalies or syndromes associated with callosal defects is discussed.
da-Silva
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Instituto Materno-Infantil de Pernambuco (IMIP), Universidade Federal de Pernambuco, Recife, PE, Brazil.
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D014057:Tomography, X-Ray Computed