A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity.
A 2-year-old boy with typical features of the acrocallosal syndrome is presented. His parents are first degree cousins and their first pregnancy resulted in spontaneous abortion whereas the offspring of their second pregnancy was an anencephalic baby with bilateral post-axial polydactyly of the hands. The possibility of including anencephaly in the spectrum of the CNS malformations of the acrocallosal syndrome is suggested.
Cataltepe
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Department of Paediatrics, Hacettepe Medical School, Ankara, Turkey.
Tuncbilek
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E
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D000757:Anencephaly / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D003965:Diaphragmatic Eventration / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D013577:Syndrome; D014034:Toes / Q000002:abnormalities