Keutel syndrome


Keutel syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 33698
ICD10 =
ICD9 =
ICDO =
OMIM = 245150
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

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.cite journal |author=Munroe PB, Olgunturk RO, Fryns JP, "et al" |title=Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome |journal=Nat. Genet. |volume=21 |issue=1 |pages=142–4 |year=1999 |pmid=9916809 |doi=10.1038/5102 |url=] [cite book
last = Potparic
first = Olivera
coauthors = John Gibson
title = A Dictionary of Congenital Malformations and Disorders
publisher = Informa Health Care
date = 1995
pages = 98
url = http://books.google.co.uk/books?id=iiY1TK5gIZMC
isbn =1850705771
] [cite journal |author=Teebi AS, Lambert DM, Kaye GM, Al-Fifi S, Tewfik TL, Azouz EM |title=Keutel syndrome: further characterization and review |journal=Am. J. Med. Genet. |volume=78 |issue=2 |pages=182–7 |year=1998 |pmid=9674914 |doi=10.1002/(SICI)1096-8628(19980630)78:2<182::AID-AJMG18>3.0.CO;2-J |url=] It was first identified in 1972.

It is associated with Matrix gla protein.cite journal |author=Munroe PB, Olgunturk RO, Fryns JP, "et al" |title=Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome |journal=Nat. Genet. |volume=21 |issue=1 |pages=142–4 |year=1999 |month=January |pmid=9916809 |doi=10.1038/5102]

References

External Links

*RareDiseases|8449|Keutel syndrome


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