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A Case Of Saethre-Chotzen Syndrome, Catherine Mckeon-Kern, Peter Mamunes

MCV/Q, Medical College of Virginia Quarterly

Saethre-Chotzen syndrome was described independently by the Norwegian psychiatrist, Saethre, and the German psychiatrist, Chotzen, in the 1930s; since that time many cases have been reported, some using the terms acrocephalosyndactyly, type III, and craniooculodental syndrome. Clinically, the syndrome is characterized by premature closure of the cranial sutures, low-set hairline, nasal septum deviation, brachydactyly, and ptosis. It is inherited as an autosomal dominant with complete penetrance and great variability in expression. Because of this variable in expressivity, the syndrome is difficult to diagnose in the less severe form without a positive family history.