Sabinas brittle hair syndrome: Difference between revisions

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==Overview==
==Overview==
'''Sabinas brittle hair syndrome''', also called '''Sabinas syndrome''' or '''brittle hair-mental deficit syndrome''', is a [[hereditary disease]]<ref>{{cite journal |author=Howell RR, Arbisser AI, Parsons DS, ''et al.'' |title=The Sabinas syndrome |journal=Am. J. Hum. Genet. |volume=33 |issue=6 |pages=957–67 |year=1981 |pmid=7325159 |pmc=1685163 |doi= |url=}}</ref> affecting the [[integumentary system]].
'''Sabinas brittle hair syndrome''', also called '''Sabinas syndrome''' or '''brittle hair-mental deficit syndrome''', is a [[hereditary disease]]<ref>{{cite journal |author=Howell RR, Arbisser AI, Parsons DS, ''et al.'' |title=The Sabinas syndrome |journal=Am. J. Hum. Genet. |volume=33 |issue=6 |pages=957–67 |year=1981 |pmid=7325159 |pmc=1685163 |doi= |url=}}</ref> affecting the [[integumentary system]].
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{{Congenital malformations and deformations of skin appendages}}
{{Congenital malformations and deformations of skin appendages}}
{{SIB}}
 


[[Category:Conditions of the skin appendages]]
[[Category:Conditions of the skin appendages]]

Revision as of 15:50, 20 August 2012

Sabinas brittle hair syndrome
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OMIM 211390

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Overview

Sabinas brittle hair syndrome, also called Sabinas syndrome or brittle hair-mental deficit syndrome, is a hereditary disease[1] affecting the integumentary system.

Diagnosis

Symptoms include brittle hair, mild mental retardation and nail dysplasia. The syndrome was first observed in Sabinas, a small community in northern Mexico.

The principal biochemical features of the illness are reduced hair cystine levels, increased copper/zinc ratio, and presence of arginosuccinic acid in the blood and urine.

Inheritance

File:Autorecessive.svg

Sabinas brittle hair syndrome is transmitted as an autosomal recessive genetic trait.

References

  1. Howell RR, Arbisser AI, Parsons DS; et al. (1981). "The Sabinas syndrome". Am. J. Hum. Genet. 33 (6): 957–67. PMC 1685163. PMID 7325159.

External links

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