Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs

American Journal of Medical Genetics
E O da-Silva


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.


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Related Concepts

Multiple Congenital Anomalies
Conditions, Recessive Genetic
Profound Mental Retardation
Tomography, X-Ray Computerized Axial
Corpus Callosum Malformation

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