Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child
Joint Authors
Shawqi, Rabah M.
Muhammad, Shayma Abd al-Sattar
Jamal, Radwah
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 16, Issue 3 (30 Sep. 2015), pp.277-281, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2015-09-30
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Topics
Abstract EN
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.
American Psychological Association (APA)
Shawqi, Rabah M.& Jamal, Radwah& Muhammad, Shayma Abd al-Sattar. 2015. Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child. The Egyptian Journal of Medical Human Genetics،Vol. 16, no. 3, pp.277-281.
https://search.emarefa.net/detail/BIM-578120
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child. The Egyptian Journal of Medical Human Genetics Vol. 16, no. 3 ( 2015), pp.277-281.
https://search.emarefa.net/detail/BIM-578120
American Medical Association (AMA)
Shawqi, Rabah M.& Jamal, Radwah& Muhammad, Shayma Abd al-Sattar. Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child. The Egyptian Journal of Medical Human Genetics. 2015. Vol. 16, no. 3, pp.277-281.
https://search.emarefa.net/detail/BIM-578120
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 281
Record ID
BIM-578120