Egyptian Journal of Medical Human Genetics

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

RM Shawky, R Gamal, SA Mohammad


We report a 4 month 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.

KEYWORDS Moebius syndrome; Macular hyperpigmentation; Pectoralis major muscle; Cranial nerves; Ptosis; Facial nerve palsy
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