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.

Roberta Pietrobono, Maria Grazia Pomponi, Giovanni Neri, L. Garavelli, G. Gargano, G. Simonte, S. Rosato, A. Wischmeijer, N. Melli, S. Braisanti, C. Gelmini, Francesca Forzano, E Andreucci, A. Toutain, A. Superti Furga

Risultato della ricerca: Contributo in rivistaArticolo in rivista

9 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)2245-2249
Numero di pagine5
RivistaAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Stato di pubblicazionePubblicato - 2012

Keywords

  • Simpson-Golabi-Behmel

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