Journal of Ophthalmology & Clinical Research Category: Clinical Type: Image Article

A Rare Case of Ablepharon Macrostomia Syndrome

Mohamed Adbellahi Cheikh Ahmed1*, Sidi Sidi Cheikh1 and Mohamed Jiddou Sidi Baba2
1 Department Of Ophthalmology, Hospital Center Of Nouakchott, Mauritania
2 Department Of Ophthalmology, Sight Priority Center, Mauritania

*Corresponding Author(s):
Mohamed Adbellahi Cheikh Ahmed
Department Of Ophthalmology, Hospital Center Of Nouakchott, Mauritania
Tel:+222 44070724,
Email:cbadahik@gmail.com

Received Date: Oct 08, 2022
Accepted Date: Oct 10, 2022
Published Date: Oct 17, 2022

Abstract

Ablepharon Macrostomia Syndrome (AMS) is a rare condition characterized by absent or extremely short eyelids and a large fish-like mouth, only 20 cases were reported.  AMS is characterized by absent or short eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. 

We describe a rare case of an infant who was born with multiple congenital anomalies, including the absence of eyelids. A 10-day old child was sent by the pediatrician for ophthalmological examination. Ophthalmic examination revealed ablepharon macrostomia syndrome.

Keywords

Ablepharon macrostomia syndrome; Eyelids; Ocular malformations

Introduction

Ablepharon Macrostomia Syndrome (AMS) is a rare condition characterized by absent or extremely short eyelids and a large fish-like mouth, only 20 cases were reported.  AMS is characterized by absent or short eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. Additional features include absent or sparse hair, hypoplasic malar region, redundant skin, rudimentary nipples, and abnormal genitalia. 

We describe a rare case of an infant who was born with multiple congenital anomalies, including the absence of eyelids [1].  

A 10-day old child was sent by the pediatrician for ophthalmological examination.  The father of the child is 27 years old and the mother is 21 years old, they come from a rural environment. The course of pregnancy and child birth have not been documented. On examination, numerous ocular malformations were observed, the ablepharon which is total on the left with the absence of an eyebrow on the same side (Figure 1). Other facial abnormalities were tilted forehead, hypertelorism, flattened nasal bridge, macrostomia, micrognathia (Figure 2), deformed earlobes. The infant also has absent nipples, brachydactyly (Figure 3) and abnormal genitalia. The patient could not be operated on because of the anesthetic risk and monitoring was instituted [2-4].

 Figure 1: Ablepharon. 

Figure 2: Micrognathia. 

Figure 3: Brachydactyly.

Conflict of interest

The authors declare no conflict of interest.

References

Citation: Ahmed MAC, Baba MJS, Cheikh SS, (2022) A Rare Case of Ablepharon Macrostomia Syndrome. J Ophthalmic Clin Res 9: 104.

Copyright: © 2022  Mohamed Adbellahi Cheikh Ahmed, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


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