Fernandes Carla, Paúl Alexandra, Venâncio Maria Margarida, Ramos Fabiana
Department of Pediatric Oncology, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Department of Genetics, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Am J Med Genet A. 2021 Aug;185(8):2502-2506. doi: 10.1002/ajmg.a.62263. Epub 2021 May 18.
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.
辛普森-戈拉比-贝梅尔综合征（SGBS）是一种罕见的X连锁疾病，其特征为产前和产后过度生长，并伴有内脏和骨骼异常。该综合征主要由X连锁基因GPC3突变引起。SGBS在受影响男性中的临床表现已明确，但对于受影响女性的了解却很少，报告的病例极少。迄今为止，总共报告了8例有SGBS临床症状的女性携带者。在本报告中，我们描述了第9例患者及其家族史。我们这位女性患者的有趣特征是患有威尔姆斯瘤以及经囟门超声检查结果。患者的姐姐是相同突变的携带者，有轻微面部畸形，但无先天性异常，到目前为止也没有进一步的临床发现，她的母亲和祖母也是如此。从这些罕见病例中可以吸取一个教训，即SGBS在女性中可能有显著的临床表现，因此，无论性别或表型严重程度如何，所有SGBS患者都应考虑进行筛查。
