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

被引：10

作者：

Garavelli, Livia ^{[1
]}

Gargano, Giancarlo ^{[2
]}

Simonte, Graziella ^{[1
]}

Rosato, Simonetta ^{[1
]}

Wischmeijer, Anita ^{[1
,3
]}

Melli, Nives ^{[2
]}

Braibanti, Silvia ^{[2
]}

Gelmini, Chiara ^{[1
]}

Forzano, Francesca ^{[4
]}

Pietrobono, Roberta ^{[5
]}

Pomponi, Maria Grazia ^{[5
]}

Andreucci, Elena ^{[6
]}

Toutain, Annick ^{[7
]}

Superti-Furga, Andrea ^{[8
]}

Neri, Giovanni ^{[5
]}

机构：

[1] Arcispedale Santa Maria Nuova, Ist Ricovero & Cura & Carattere Sci, Obstet & Pediat Dept, Clin Genet Unit, I-42100 Reggio Emilia, Italy

[2] Arcispedale Santa Maria Nuova, Ist Ricovero & Cura & Carattere Sci, Obstet & Pediat Dept, Dept Neonatol, I-42100 Reggio Emilia, Italy

[3] Univ Hosp S Orsola Malpighi, Bologna, Italy

[4] Galliera Hosp, Clin Genet Unit, Genoa, Italy

[5] Catholic Univ, Inst Med Genet, Rome, Italy

[6] Univ Florence, Dept Clin Pathophysiol, Florence, Italy

[7] Univ Tours, CHU Tours, Serv Genet, Tours, France

[8] Univ Lausanne, CHU Vaudois, Dept Pediat, Lausanne, Switzerland

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2012年 / 158A卷 / 09期

关键词：

Simpson-Golabi-Behmel syndrome type 1-SGBS1-GPC3-newborn phenotype; index finger hypoplasia; fingernail hypoplasia; rib malformations; OVERGROWTH SYNDROME; BECKWITH-WIEDEMANN; GLYPICAN GENE; GPC3; GENE; MUTATIONS; FAMILY; DYSPLASIA; PATIENT; CLUSTER; MALES;

D O I：

10.1002/ajmg.a.35474

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2012 Wiley Periodicals, Inc.

引用

页码：2245 / 2249

页数：5

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