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.

Garavelli, L., Gargano, G., Simonte, G., Rosato, S., Wischmeijer, A., Melli, N., Braisanti, S., Gelmini, C., Forzano, F., Pietrobono, R., Pomponi, M. G., Andreucci, E., Toutain, A., Superti Furga, A., Neri, G., 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., <<AMERICAN JOURNAL OF MEDICAL GENETICS. PART A>>, 2012; (Settembre): 2245-2249 [http://hdl.handle.net/10807/39807]

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.

Pietrobono, Roberta;Pomponi, Maria Grazia;Neri, Giovanni
2012

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.
Inglese
Garavelli, L., Gargano, G., Simonte, G., Rosato, S., Wischmeijer, A., Melli, N., Braisanti, S., Gelmini, C., Forzano, F., Pietrobono, R., Pomponi, M. G., Andreucci, E., Toutain, A., Superti Furga, A., Neri, G., 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., <<AMERICAN JOURNAL OF MEDICAL GENETICS. PART A>>, 2012; (Settembre): 2245-2249 [http://hdl.handle.net/10807/39807]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/39807
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? ND
social impact