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

Abstract

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.

Keywords: Simpson–Golabi–Behmel syndrome; Over growth syndromes; Glypican (GPC) 3; Polydactyly; Macroglossia; Accessory nipples