DOI: 10.36347/sjmcr.2024.v12i01.032

Pages: 123-125

Simpson Golabi Behmel Syndrome (SGBS) is a rare syndrome characterized clinically by multiple congenital anomalies, pre and postnatal overgrowth, characteristic craniofacial anomalies, macrocephaly, and organomegaly associated with abnormalities of the skeletal system. On the molecular level, there are genomic rearrangements involving point mutations of the glypican-3 (GPC3) gene at Xq26. The spectrum of signs and symptoms associated with SGBS is wide, ranging from very mild to fatal forms, especially in affected men. We report a rare case of a child affected by SGBS type 1, emphasizing the clinical, paraclinical, therapeutic and monitoring modalities of this possibly serious syndrome.