<abstract xmlns="http://www.w3.org/1999/xhtml"><p>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 <italic>TWIST2</italic>. 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.</p></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.

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

Department of Pediatrics, Faculty of Medicine

Department of Pediatrics, Faculty of Medicine, Center of Excellence for Medical Genomics

Excellence Center for Genomics and Precision Medicine

Asian Biomedicine

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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...

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

Article Category: Clinical vignette

Online veröffentlicht: 04. Aug. 2020

Seitenbereich: 83 - 88

DOI: https://doi.org/10.1515/abm-2020-0012

Schlüsselwörter
ablepharon macrostomia syndrome, Barber Say syndrome, lagophthalmos, whole exome sequencing

© 2020 Phawin Kor-anantakul et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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

Article Category: Clinical vignette

Online veröffentlicht: 04. Aug. 2020

Seitenbereich: 83 - 88

DOI: https://doi.org/10.1515/abm-2020-0012

Schlüsselwörterablepharon macrostomia syndrome, Barber Say syndrome, lagophthalmos, whole exome sequencing

© 2020 Phawin Kor-anantakul et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Schlüsselwörter
ablepharon macrostomia syndrome, Barber Say syndrome, lagophthalmos, whole exome sequencing