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
2015 Egyptian Journal of Medical Human Genetics  
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
more » ... was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle. Ó 2014 Production and hosting by Elsevier B.V. on behalf of Ain Shams University. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
doi:10.1016/j.ejmhg.2014.10.003 fatcat:uithqnrfnjhhrlq36rlteihj2u