Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

Rabah M Shawky,Radwa Gamal,Shaimaa Abdelsattar Mohammad

doi:10.1016/j.ejmhg.2014.10.003

Rabah M Shawky, Radwa Gamal + Show 1 more

Open Access

https://doi.org/10.1016/j.ejmhg.2014.10.003

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Abstract

We report a 4month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing. Associated anomalies include abnormal facial features, bilateral finger anomalies, bilateral talipes equinovarus, kyphoscoliosis, hypotonia, high frequency hearing loss. Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle.

Highlights

Moebius syndrome is a congenital, nonprogressive complete or partial facial nerve palsy, with limited abduction of one or both eyes [1]
Neither the etiology nor the pathogenesis of the syndrome have yet been elucidated, there are two theories: a developmental rhombomeric defect involving predominantly motor nuclei and axons as well as traversing long tracts due to a genetic cause [6], or an interruption in the vascular supply of the brainstem resulting in ischemia in the region of the facial cranial nerve nuclei owing to an environmental, mechanical or a genetic cause [7,8]
Moebius syndrome can be considered as a complex regional developmental disorder of the brainstem [9]

Summary

Introduction

Moebius syndrome is a congenital, nonprogressive complete or partial facial nerve palsy, with limited abduction of one or both eyes [1]. Neither the etiology nor the pathogenesis of the syndrome have yet been elucidated, there are two theories: a developmental rhombomeric defect involving predominantly motor nuclei and axons as well as traversing long tracts due to a genetic cause [6], or an interruption in the vascular supply of the brainstem resulting in ischemia in the region of the facial cranial nerve nuclei owing to an environmental, mechanical or a genetic cause [7,8]. Moebius syndrome can be considered as a complex regional developmental disorder of the brainstem [9]. We report a case with the typical features of Moebius syndrome who has in addition some unreported features after taking consent of the parents

Case report

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Discussion