+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

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



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 158a(9): 2245-2249



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.

(PDF emailed within 0-6 h: $19.90)

Accession: 055783044

Download citation: RISBibTeXText

PMID: 22807161

DOI: 10.1002/ajmg.a.35474


Related references

Index finger abnormalities in Simpson-Golabi-Behmel syndrome. Clinical Dysmorphology 14(1): 35-36, 2004

The Simpson-Golabi-Behmel syndrome. The stages of a diagnostic procedure. Minerva Pediatrica 45(4): 163-167, 1993

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. American Journal of Medical Genetics. Part a 170a(2): 392-402, 2016

Identification of the Simpson-Golabi-Behmel syndrome type 2 gene candidates on chromosome Xp22. American Journal of Human Genetics 71(4 Supplement): 561, October, 2002

Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene. American Journal of Medical Genetics. Part a 161a(5): 1091-1095, 2013

A male newborn with Simpson-Golabi-Behmel syndrome, presenting with metopic synostosis, anal atresia, and total anomalous pulmonary venous return. Genetic Counseling 25(4): 439-443, 2015

Simpson-Golabi-Behmel syndrome. Ryoikibetsu Shokogun Shirizu 2001(34 Pt 2): 638-639, 2001

Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome. American Journal of Medical Genetics 46(5): 606-607, 1993

Three new families with the simpson golabi behmel syndrome. American Journal of Human Genetics 49(4 SUPPL): 143, 1991

Simpson-Golabi-Behmel syndrome types I and II. Orphanet Journal of Rare Diseases 9: 138, 2015

Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. American Journal of Medical Genetics 83(5): 378-381, April 23, 1999

Sex chromosome aneuploidy in the Simpson-Golabi-Behmel syndrome. American Journal of Human Genetics 51(4 SUPPL ): A309, 1992

Simpson-Golabi-Behmel syndrome associated with cleft palate. Journal of Craniofacial Surgery 22(5): 1917-1918, 2011

Germinal mosaicism in Simpson-Golabi-Behmel syndrome. Clinical Genetics 72(4): 384-386, 2007

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome. American Journal of Medical Genetics. Part a 170(12): 3258-3264, 2016