Congenital contractural arachnodactyly in a black African kindred.
Congenital Contractural Arachnodactyly is an inherited disorder of connective tissue characterised by congenital contractures, arachnodactyly, marfanoid habitus, crumpled auricles and in some kindreds, progressive kyphoscoliosis. An extensive kindred with many affected members is described. The importance of the early recognition of this syndrome is highlighted.
Wainer
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Department of Paediatrics, University of the Witwatersrand, Baragwanath Hospital, South Africa.
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D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D044383:Black People / Q000235:genetics; D003286:Contracture / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D004431:Ear, External / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D013019:South Africa; D015030:Zimbabwe