Simpson-Golabi-Behmel syndrome: One family, same mutation, different outcome

摘要

Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked condition characterized by pre and postnatal overgrowth with visceral and skeletal abnormalities. The syndrome is caused mainly by mutations in the X-linked gene GPC3. Clinical presentation of SGBS in affected males is well defined, but there is a lack of knowledge about affected females, with very few reported cases. In total, eight female carriers with clinical expression of SGBS have been reported to date. In the present report, we describe the ninth patient and her family history. The interesting features of our female patient are the Wilms' tumor and the transfontanelar ultrasound findings. The patient's older sister, carrier of the same mutation, has minor facial dysmorphisms but no congenital anomalies and so far, no further clinical findings, as well as her mother and grandmother. There is a lesson to be learned from these rare cases, namely that SGBS may have a significant clinical expression in females, and therefore, screening should be considered in all patients with SGBS regardless of the sex or phenotypic severity.