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Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity
T J de Ravel1, D E Berkowitz, J M Wagner
1Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg, South Africa. Thomyd@mail.saimr.wits.ac.za
Clinical Dysmorphology
|May 18, 1999
Abstract:
A sibling pair with brachydactyly type B born to a normal non-consanguineous couple are described and the severity of their condition discussed. It is proposed that a subgroup of individuals with brachydactyly type B principally involving the nails and distal phalanges, and also having distinct facies, might be identical to individuals having 'Cooks syndrome'.