Intrafamilial variability in simpson–golabi–behmel syndrome with bilateral posterior ear lobule creases
Joint Authors
Shawqi, Rabah M.
Abd al-Khaliq, Hibah Salah
Raghib, Shayma Jad
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 15, Issue 1 (31 Jan. 2014), pp.87-90, 4 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2014-01-31
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Topics
Abstract EN
We report a family having two male sibs with Simpson–Golabi–Behmel syndrome (SGBS).
Both have many typical features of the syndrome.
These features included macrocephaly, macroglossia, post axial polydactyl of the left hand, bilateral low insertion of the thumb, multiple accessory nipples, hepatomegaly, and congenital heart.
The patients have bilateral anterior helical ear pits, and characteristic posterior ear lobule creases.
The older one has severe mental retardation and died at the age of 13 months with bronchopneumonia, and the younger one is 7 months old with normal mentality.
The mother looks broad, stocky, and tall.
American Psychological Association (APA)
Shawqi, Rabah M.& Abd al-Khaliq, Hibah Salah& Raghib, Shayma Jad. 2014. Intrafamilial variability in simpson–golabi–behmel syndrome with bilateral posterior ear lobule creases. The Egyptian Journal of Medical Human Genetics،Vol. 15, no. 1, pp.87-90.
https://search.emarefa.net/detail/BIM-360488
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Intrafamilial variability in simpson–golabi–behmel syndrome with bilateral posterior ear lobule creases. The Egyptian Journal of Medical Human Genetics Vol. 15, no. 1 (Jan. 2014), pp.87-90.
https://search.emarefa.net/detail/BIM-360488
American Medical Association (AMA)
Shawqi, Rabah M.& Abd al-Khaliq, Hibah Salah& Raghib, Shayma Jad. Intrafamilial variability in simpson–golabi–behmel syndrome with bilateral posterior ear lobule creases. The Egyptian Journal of Medical Human Genetics. 2014. Vol. 15, no. 1, pp.87-90.
https://search.emarefa.net/detail/BIM-360488
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 90
Record ID
BIM-360488