Keutel syndrome: further characterization and review.
Publication/Presentation Date
6-30-1998
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.
Volume
78
Issue
2
First Page
182
Last Page
187
ISSN
0148-7299
Published In/Presented At
Teebi, A. S., Lambert, D. M., Kaye, G. M., Al-Fifi, S., Tewfik, T. L., & Azouz, E. M. (1998). Keutel syndrome: further characterization and review. American journal of medical genetics, 78(2), 182–187.
Disciplines
Medicine and Health Sciences
PubMedID
9674914
Department(s)
Department of Surgery
Document Type
Article