Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.

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.

Iowa Workforce News, January 2013, Issue 27

Iowa Workforce Development's bi-monthly newsletter.

Code d'organisation judiciaire allemande (27 janvier 1877). I. Introduction / par L. Dubarle,...

Collection : Collection des principaux codes étrangers

Code d'organisation judiciaire allemande (27 janvier 1877). II. Traduction et notes / par L. Dubarle,...

Collection : Collection des principaux codes étrangers

Report on a special investigation of the Coggon Municipal Light Plant for the period July 1, 2004 through August 27, 2012

Report on a special investigation of the Coggon Municipal Light Plant for the period July 1, 2004 through August 27, 2012