Clinical Genetics Unit-Obstetric and Pediatric Department, Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia, Italy.
Am J Med Genet A. 2012 Sep;158A(9):2245-9. doi: 10.1002/ajmg.a.35474. Epub 2012 Jul 17.
The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene. We describe a macrosomic 27-week preterm newborn with SGBS1 who presents a novel GPC3 mutation and emphasize the phenotypic aspects which allow a correct diagnosis neonatally in particular the rib malformations, hypoplasia of index finger and of the same fingernail, and 2nd-3rd finger syndactyly.
辛普森-高拉比-贝姆综合征 1 型（SGBS1，OMIM#312870）是一种 X 连锁过度生长疾病，包括异常面部外观、多余乳头、先天性心脏缺陷、多指畸形、指甲发育不良、新生儿死亡和肿瘤风险增加。它是由 GPC3 基因突变/缺失引起的。我们描述了一例患有 SGBS1 的 27 周大的巨大早产儿，他携带一种新的 GPC3 突变，并强调了在新生儿期能够做出正确诊断的表型特征，特别是肋骨畸形、食指和同指甲发育不良以及 2-3 指并指。
