Keutel syndrome

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Keutel syndrome
Classification and external resources
OMIM 245150
DiseasesDB 33698

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.
Keutel syndrome has an autosomal recessive pattern of inheritance.

It is associated with Matrix gla protein.[4]

[edit] References

  1. ^ a b Munroe, Patricia; Rana O. Olgunturk, Jean-Pierre Fryns, Lionel Van Maldergem, France Ziereisen, Bulend Yuksel, R. Mark Gardiner & Eddie Chung (1999). "Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome". Nature Genetics (21): 142–144. doi:10.1038/5102. 
  2. ^ Potparic, Olivera; John Gibson (1995). A Dictionary of Congenital Malformations and Disorders. Informa Health Care, 98. ISBN 1850705771. 
  3. ^ Teebi, A. S.; Lambert DM, Kaye GM, Al-Fifi S, Tewfik TL, Azouz EM. (1998-06-30). "Keutel syndrome: further characterization and review.". American Journal of Medical Genetics 78 (2): 182–7. doi:10.1002/(SICI)1096-8628(19980630)78:2<182::AID-AJMG18>3.0.CO;2-J. 
  4. ^ Munroe PB, Olgunturk RO, Fryns JP, et al (January 1999). "Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome". Nat. Genet. 21 (1): 142–4. doi:10.1038/5102. PMID 9916809.