<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...

Clinical characteristic	Present case	AMS^† (%)	BSS^‡ (%)	FFDD3^§ (%)

TWIST2 mutation	p.Glu75Lys	p.Glu75Lys	p.Glu75Gln, p.Glu75Ala, p.Gln77_Arg78dup	p.Leu109Pro, p.Gln119Ter, p.Gln65Ter, p.Arg31Glyfs^71, p.Ser57Alafs^45
Ophthalmic morphology
Absent eyelids	+	75	6	−
Ectropion	+	94	81	−
Entropion	−	6	−	−††
Facial morphology
Bitemporal narrowing	+	56	50	100
Excessive creases	+	81	81	89
Macrostomia	+	81	100	33
Small ears	+	75	50	78
Ectodermal signs
Sparse scalp hair	+	75	−	89
Sparse/absent eyebrows	+	100	63	100
Sparse/absent eyelashes	+	100	69	100
Wrinkled skin/redundant skin	+	94	88	89
Genitalia and anus
Small labia majora	+	56	13	−
Anteriorly located anus	+	25	−	NA
Growth impairment^¶	±	67	−	NA
Facial morphology
Extension of septum on philtrum	−	−	50	100
Everted upper vermillion	−	−	−	44
Ectodermal signs
Hypertrichosis	−	−	94	−
Limb anomalies
Syndactyly	−	44	6	−
Camptodactyly	−	38	−	−
Developmental delay	−	30	25	13

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

Article Category: Clinical vignette

Published Online: Aug 04, 2020

Page range: 83 - 88

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

Keywords
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.

Figure 1

Figure 2

Figure 3

Clinical characteristics of the patient with ablepharon macrostomia syndrome compared with patients other syndromes having a TWIST2 variation

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

Article Category: Clinical vignette

Published Online: Aug 04, 2020

Page range: 83 - 88

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

Keywordsablepharon 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.

Figure 1

Figure 2

Figure 3

Clinical characteristics of the patient with ablepharon macrostomia syndrome compared with patients other syndromes having a TWIST2 variation

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