A Family With Novel X-Linked Recessive Homozygous Mutation in ANOS1 (c.628_629 del, p.1210fs∗) in Kallmann Syndrome Associated Unilateral Ptosis: Case Report and Literature Review

A Family With Novel X-Linked Recessive Homozygous Mutation in ANOS1 (c.628_629 del, p.1210fs∗) in Kallmann Syndrome Associated Unilateral Ptosis: Case Report and Literature Review

Objective: Kallmann syndrome (KS) may be accompanied by anosmia or hyposmia and midline defects. We present an overweight 16-year-old boy with a lack of puberty, anosmia, congenital right eye ptosis, and normal intellectual function. Methods: Testicular ultrasonography was performed. Whole-exome seq...

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Bibliographic Details
Main Authors: Shahab Noorian, MD, Shahram Savad, MD, PhD, Armin Khavandegar, MD, Mahnaz Jamee, MD
Format: Article
Language:English
Published: Elsevier 2021-05-01
Series:AACE Clinical Case Reports
Subjects:
ANOS-1
anosmia
congenital ptosis
hypogonadotropic hypogonadism
Kallmann syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060521000171

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http://www.sciencedirect.com/science/article/pii/S2376060521000171

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