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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
Author(s) -
Garavelli Livia,
Gargano Giancarlo,
Simonte Graziella,
Rosato Simonetta,
Wischmeijer Anita,
Melli Nives,
Braibanti Silvia,
Gelmini Chiara,
Forzano Francesca,
Pietrobono Roberta,
Pomponi Maria Grazia,
Andreucci Elena,
Toutain Annick,
SupertiFurga Andrea,
Neri Giovanni
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35474
Subject(s) - polydactyly , syndactyly , hypoplasia , medicine , supernumerary , nail (fastener) , anatomy , materials science , metallurgy
Abstract 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. © 2012 Wiley Periodicals, Inc.