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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==Diagnosis== | ==Diagnosis== | ||
Symptoms include brittle hair, mild mental retardation and nail [[dysplasia]]. The syndrome was first observed in | 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]]. | 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]]. | ||
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==Inheritance== | ==Inheritance== | ||
[[Image:autorecessive.svg|thumb| | [[Image:autorecessive.svg|thumb|left|Sabinas brittle hair syndrome has an autosomal recessive pattern of [[inheritance]].]] | ||
Sabinas brittle hair syndrome is transmitted as an [[autosomal]] [[recessive gene]]tic trait. | Sabinas brittle hair syndrome is transmitted as an [[autosomal]] [[recessive gene]]tic trait. | ||
==References== | ==References== | ||
{{reflist | {{reflist|2}} | ||
==External links== | ==External links== | ||
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{{Congenital malformations and deformations of skin appendages}} | {{Congenital malformations and deformations of skin appendages}} | ||
[[Category:Conditions of the skin appendages]] | [[Category:Conditions of the skin appendages]] | ||
Latest revision as of 14:48, 6 September 2012
| Sabinas brittle hair syndrome | |
| Classification and external resources | |
| OMIM | 211390 |
|---|---|
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
Sabinas brittle hair syndrome is transmitted as an autosomal recessive genetic trait.