Keutel syndrome: further characterization and review

Abstract

Keutel syndrome is a rare autosomal recessive disorder characterized by diffuse cartilage calcification, characteristic physiognomy, brachytelephalangism, peripheral pulmonary stenosis, hearing loss, and borderline to mild mental retardation. We report on an Arab boy with Keutel syndrome and cerebral calcifications identified at 15 years while investigating a seizure disorder. The parents are phenotypically normal first cousins. Thirteen cases in 9 families (including this case) have been published. Six families were consanguineous, two had multiple affected sibs (males and females) and 4 families originated from the Middle East.