DOI: 10.36347/sjmcr.2022.v10i09.026

Pages: 970-972

Simpson-Golabi-Behmel syndrome (GBS) is a rare, X-linked recessive genetic disorder caused by loss-of-function mutations in the GPC3 (Xq26) gene, with polymorphic clinical presentation and evolutionary profile, characterized by growth accelerated pre- and postnatal, facial dysmorphism and visceral and skeletal malformations, varied and inconstant, as well as an increased tumor risk. We report the case of a 4-month-old infant, the result of a poorly followed pregnancy carried to term, birth weight was 4200g with notion of delayed cry. The parents are non-consanguineous, no similar case in the family. Our patient is followed for hemicorporal tonic-clonic epileptic seizures evolving since birth, controlled by phenobarbital. Clinical examination found psychomotor retardation, height and weight advance, macrocrania, enlarged anterior fontanelle, facial dysmorphism with hypertelorism and obliterated nasal root, supernumerary nipple, umbilical hernia and polydactyly. Examination of the external genitalia reveals cryptorchidism bilateral. A paraclinical assessment was requested to look for associated malformations came back normal. In the light of the literature and through this observation, the authors support the phenotypic, genetic and evolutionary particularities of the syndrome by Simpson-Golabi-Behmel.