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

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

Facoltà di Medicina e Chirurgia "A.Gemelli"

Risultato della ricerca: Contributo in rivista › Articolo 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 originale	English
pagine (da-a)	2245-2249
Numero di pagine	5
Rivista	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Stato di pubblicazione	Pubblicato - 2012

Keywords

Simpson-Golabi-Behmel

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Pietrobono, R., Pomponi, M. G., Neri, G., Garavelli, L., Gargano, G., Simonte, G., Rosato, S., Wischmeijer, A., Melli, N., Braisanti, S., Gelmini, C., Forzano, F., Andreucci, E., Toutain, A., & Superti Furga, A. (2012). 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, 2245-2249.

Pietrobono, Roberta ; Pomponi, Maria Grazia ; Neri, Giovanni ; Garavelli, L. ; Gargano, G. ; Simonte, G. ; Rosato, S. ; Wischmeijer, A. ; Melli, N. ; Braisanti, S. ; Gelmini, C. ; Forzano, Francesca ; Andreucci, E ; Toutain, A. ; Superti Furga, A. / 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. In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 2012 ; pagg. 2245-2249.

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title = "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.",

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.",

keywords = "Simpson-Golabi-Behmel, Simpson-Golabi-Behmel",

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

year = "2012",

language = "English",

pages = "2245--2249",

journal = "AMERICAN JOURNAL OF MEDICAL GENETICS. PART A",

issn = "1552-4825",

publisher = "WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030",

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Pietrobono, R, Pomponi, MG, Neri, G, Garavelli, L, Gargano, G, Simonte, G, Rosato, S, Wischmeijer, A, Melli, N, Braisanti, S, Gelmini, C, Forzano, F, Andreucci, E, Toutain, A & Superti Furga, A 2012, '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, pagg. 2245-2249.

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; Garavelli, L.; Gargano, G.; Simonte, G.; Rosato, S.; Wischmeijer, A.; Melli, N.; Braisanti, S.; Gelmini, C.; Forzano, Francesca; Andreucci, E; Toutain, A.; Superti Furga, A.

In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 2012, pag. 2245-2249.

Risultato della ricerca: Contributo in rivista › Articolo in rivista

TY - JOUR

T1 - 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.

AU - Pietrobono, Roberta

AU - Pomponi, Maria Grazia

AU - Neri, Giovanni

AU - Garavelli, L.

AU - Gargano, G.

AU - Simonte, G.

AU - Rosato, S.

AU - Wischmeijer, A.

AU - Melli, N.

AU - Braisanti, S.

AU - Gelmini, C.

AU - Forzano, Francesca

AU - Andreucci, E

AU - Toutain, A.

AU - Superti Furga, A.

PY - 2012

Y1 - 2012

N2 - 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.

AB - 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.

KW - Simpson-Golabi-Behmel

UR - http://hdl.handle.net/10807/39807

M3 - Article

SP - 2245

EP - 2249

JO - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

JF - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

SN - 1552-4825

ER -