KEUTEL SYNDROME - FURTHER CHARACTERIZATION AND REVIEW

Keutel syndrome is a rare autosomal recessive disorder characterized b y diffuse cartilage calcification, characteristic physiognomy, brachyt elephalangism, peripheral pulmonary stenosis, hearing loss, and border line to mild mental retardation, We report on an Arab boy with Keutel syndrome and cerebral calcifications identified at 15 years while inve stigating a seizure disorder. The parents are phenotypically normal fi rst cousins, Thirteen cases in 9 families (including this case) have b een published. Six families were consanguineous, two had multiple affe cted sibs (males and females) and 4 families originated from the Middl e East. Am. J, Med, Genet. 77:182-187, 1998. (C) 1998 Wiley-Liss, Inc.