Vasquez Hurst Sotos syndrome: Difference between revisions

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Latest revision as of 12:46, 31 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. ^[1]

Pathophysiology

Genetics

Transmission appears to be X-linked recessive.

This syndrome may belong to the group of X-linked intellectual deficit-hypotonic facies syndromes caused by mutations in the ATRX gene (Xq21.1).

Epidemiology and Demographics

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

References

↑ http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3423

Template:WikiDoc Sources

[1] ttp://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3423

[1]

@@ Line 1: / Line 1: @@
 __NOTOC__
 {{SI}}
 {{CMG}} '''Assosciate Editor(s)-In-Chief:''' [[User: Prashanthsaddala|Prashanth Saddala M.B.B.S]]
-'''''Synonyms and keywords:'''''             Hypogonadism - gynecomastia - X-linked intellectual deficit
+'''''Synonyms and keywords:''''' Hypogonadism - gynecomastia - X-linked intellectual deficit
 == 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]]. <ref>http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3423</ref>
-==Historical Perspective==
-==Classification==
 ==Pathophysiology==
 === Genetics ===
+Transmission appears to be [[X-linked recessive]].
-===Associated Conditions===
+This syndrome may belong to the group of X-linked intellectual deficit-hypotonic facies syndromes caused by mutations in the [[ATRX]] gene (Xq21.1).
-==Causes==
 == Epidemiology and Demographics ==
+It has been described in five males from four generations of one family.
-== Risk Factors ==
-== Screening ==
-== Natural History, Complications, and Prognosis==
-== Diagnosis ==
-=== Symptoms ===
-===Family History===
-=== Physical Examination ===
-==== Appearance of the Patient ====
-====Vital Signs====
-====Skin====
-====Head====
-==== Eyes ====
-==== Ear ====
-====Nose====
-====Throat ====
-==== Heart ====
-==== Lungs ====
-==== Abdomen ====
-==== Extremities ====
-==== Neurologic ====
-==== Other ====
-=== Laboratory Findings ===
-==== Biomarker Studies ====
-====CT ====
-==== MRI ====
-==== Ultrasound ====
-== Treatment ==
-=== Pharmacotherapy ===
-==== Acute Pharmacotherapies ====
-==== Chronic Pharmacotherapies ====
-=== Surgery and Device Based Therapy ===
-==== Indications for Surgery ====
-==== Pre-Operative Assessment ====
-==== Post-Operative Management ====
-===Primary Prevention===
-====Genetic Counseling====
 ==References==
@@ Line 100: / Line 22: @@
 [[Category:Disease]]
-[[Category:FLK]]