Unusual association of Saethre‐Chotzen syndrome and congenital adrenal hyperplasia

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Abstract
This report describes and discusses the very rare occurrence of two heritable traits, the Saethre‐Chotzen syndrome and congenital adrenal hyperplasia (21 hydroxylase deficiency, salt‐losing type) in a female infant whose father presents the clinical manifestations of Saethre‐Chotzen syndrome. Family study revealed no other instances of the recessively inherited adrenogenital syndrome. Other literature cases combining acrocephalosyndactyly and urogenital anomalies are discussed and compared.

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