Ablepharon macrostomia syndrome in a Thai patient: case report and literature review-Reference-Cited by-同舟云学术

Ablepharon macrostomia syndrome in a Thai patient: case report and literature review

Published:2020-04-01 Issue:2 Volume:14 Page:83-88
ISSN:1875-855X
Container-title:Asian Biomedicine
language:en
Short-container-title:

Author:

Kor-anantakul Phawin¹,Suphapeetiporn Kanya²³,Jaruratanasirikul Somchit¹

Affiliation:

1. Department of Pediatrics, Faculty of Medicine , Prince of Songkla University , Hat Yai , Songkhla , Thailand

2. Department of Pediatrics, Faculty of Medicine, Center of Excellence for Medical Genomics , Chulalongkorn University , Bangkok , Thailand

3. Excellence Center for Genomics and Precision Medicine , King Chulalongkorn Memorial Hospital , Thai Red Cross Society , Bangkok , Thailand

Abstract

Abstract Ablepharon macrostomia syndrome (AMS) is a rare congenital disorder. To our knowledge, only 20 cases have been reported to date, and all in patients from Western countries. We report a case of AMS in a Thai patient, who presented at age 3 months with severe ectropion of both upper and lower eyelids, alopecia totalis, no palpable clitoris, and hypoplasia of both labia minora and labia majora. Trio whole exome sequencing analysis was performed, which revealed a heterozygous missense c.223G>A (p.Glu75Lys) variation in TWIST2. To our knowledge, this is the first reported case of AMS in a patient from Thailand and the first reported case of AMS in Asia.

Publisher

Walter de Gruyter GmbH

Reference28 articles.

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