Intrafamilial variability in Simpson–Golabi–Behmel syndrome with bilateral posterior ear lobule creases

Intrafamilial variability in Simpson–Golabi–Behmel syndrome with bilateral posterior ear lobule creases

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, hepatomeg...

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Bibliographic Details
Main Authors: Rabah M. Shawky, Heba Salah Abd-Elkhalek, Shimaa Gad
Format: Article
Language:English
Published: SpringerOpen 2014-01-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Simpson–Golabi–Behmel syndrome
Over growth syndromes
Glypican (GPC) 3
Polydactyly
Macroglossia
Accessory nipples
Online Access:http://www.sciencedirect.com/science/article/pii/S111086301300061X

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http://www.sciencedirect.com/science/article/pii/S111086301300061X

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