Vasquez Hurst Sotos syndrome: Difference between revisions

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'''''Synonyms and keywords:''''' Hypogonadism - gynecomastia - X-linked intellectual deficit
'''''Synonyms and keywords:''''' Hypogonadism - gynecomastia - X-linked intellectual deficit
== Overview ==
== Overview ==
 
Vasquez-Hurst-Sotos syndrome is characterized by the association of X-linked [[Mental retardation|intellectual deficit]], [[hypogonadotropic hypogonadism]], [[gynecomastia]], [[facial dysmorphism]], [[obesity]], and [[short stature]]. This syndrome may belong to the group of X-linked intellectual deficit-hypotonic facies syndromes caused by mutations in the ATRX gene (Xq21.1).
==Historical Perspective==
==Historical Perspective==


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==Pathophysiology==
==Pathophysiology==


=== Genetics ===
=== Genetics ===
 
Transmission appears to be X-linked recessive.


===Associated Conditions===
===Associated Conditions===
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== Epidemiology and Demographics ==
== Epidemiology and Demographics ==
 
It has been described in five males from four generations of one family.
== Risk Factors ==
== Risk Factors ==



Revision as of 15:58, 30 July 2012

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S

Synonyms and keywords: Hypogonadism - gynecomastia - X-linked intellectual deficit

Overview

Vasquez-Hurst-Sotos syndrome is characterized by the association of X-linked intellectual deficit, hypogonadotropic hypogonadism, gynecomastia, facial dysmorphism, obesity, and short stature. This syndrome may belong to the group of X-linked intellectual deficit-hypotonic facies syndromes caused by mutations in the ATRX gene (Xq21.1).

Historical Perspective

Classification

Pathophysiology

=== Genetics ===

Transmission appears to be X-linked recessive.

Associated Conditions

Causes

Epidemiology and Demographics

It has been described in five males from four generations of one family.

Risk Factors

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