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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Keutel syndrome

Introduction

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]

Keutel syndrome has an autosomal recessive pattern of inheritance.

References

  1. ↑ 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)
  2. ↑ Potparic, Olivera (1995). A Dictionary of Congenital Malformations and Disorders. Informa Health Care. p. 98. ISBN 1850705771. Unknown parameter |coauthors= ignored (help)
  3. ↑ 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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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]