Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia.
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.
D000168:Acrocephalosyndactylia / Q000235:genetics*; D000312:Adrenal Hyperplasia, Congenital; D000328:Adult; D005799:Genes, Dominant; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D013250:Steroid Hydroxylases / Q000172:deficiency*; D013577:Syndrome
D013250:Steroid Hydroxylases