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
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.