Keutel syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Keutel syndrome is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges (tips) of the fingers and mild mental retardation.[1] [2] [3] It was first identified in 1972.[1]
References
- ↑ 1.0 1.1 Munroe, Patricia (1999). “Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome”. Nature Genetics (21): 142–144. doi:10.1038/5102. Retrieved 2007-02-23. Unknown parameter
|coauthors=ignored (help) - ↑ Potparic, Olivera (1995). A Dictionary of Congenital Malformations and Disorders. Informa Health Care. p. 98. ISBN 1850705771. Unknown parameter
|coauthors=ignored (help) - ↑ Teebi, A. S. (1998-06-30). “Keutel syndrome: further characterization and review”. American Journal of Medical Genetics. 78 (2): 182–7. Retrieved 2007-02-23. Unknown parameter
|coauthors=ignored (help)
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