Woodhouse-Sakati syndrome: Difference between revisions
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==Overview== | ==Overview== | ||
'''Woodhouse-Sakati syndrome''' is a rare [[autosomal recessive]]<ref name=wssone>{{cite journal |author=Medica I, Sepcic J, Peterlin B |title=Woodhouse-Sakati syndrome: case report and symptoms review |journal=Genet Couns. |volume=18 |issue=2 |pages=227-231 |year=2007 |pmid=17710875 }}</ref> [[genetic disorder]] which causes malformations and deficiencies affecting the [[endocrine system]].<ref name="pmid6876115">{{cite journal |author=Woodhouse NJ, Sakati NA |title=A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities |journal=J. Med. Genet. |volume=20 |issue=3 |pages=216-9 |year=1983 |pmid=6876115 |doi=}}</ref> | '''Woodhouse-Sakati syndrome''' is a rare [[autosomal recessive]]<ref name=wssone>{{cite journal |author=Medica I, Sepcic J, Peterlin B |title=Woodhouse-Sakati syndrome: case report and symptoms review |journal=Genet Couns. |volume=18 |issue=2 |pages=227-231 |year=2007 |pmid=17710875 }}</ref> [[genetic disorder]] which causes malformations and deficiencies affecting the [[endocrine system]].<ref name="pmid6876115">{{cite journal |author=Woodhouse NJ, Sakati NA |title=A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities |journal=J. Med. Genet. |volume=20 |issue=3 |pages=216-9 |year=1983 |pmid=6876115 |doi=}}</ref> | ||
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==References== | ==References== | ||
{{reflist}} | {{reflist|2}} | ||
{{Endocrine pathology}} | {{Endocrine pathology}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Latest revision as of 16:00, 6 September 2012
| Woodhouse-Sakati syndrome | |
| OMIM | 241080 |
|---|---|
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Woodhouse-Sakati syndrome is a rare autosomal recessive[1] genetic disorder which causes malformations and deficiencies affecting the endocrine system.[2]
Presentation
The syndrome is characterized by alopecia, hypogonadism, hypothyroidism, hearing loss, mental retardation and diabetes mellitus. Electrocardiogram anomalies have also been reported.[1]
References
- ↑ 1.0 1.1 Medica I, Sepcic J, Peterlin B (2007). "Woodhouse-Sakati syndrome: case report and symptoms review". Genet Couns. 18 (2): 227–231. PMID 17710875.
- ↑ Woodhouse NJ, Sakati NA (1983). "A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities". J. Med. Genet. 20 (3): 216–9. PMID 6876115.