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.
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.
Clinical Genetics Unit-Obstetric and Pediatric Department, Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia, Italy. garavelli.livia@asmn.re.it
Livia
L
Garavelli
Giancarlo
G
Gargano
Graziella
G
Simonte
Simonetta
S
Rosato
Anita
A
Wischmeijer
Nives
N
Melli
Silvia
S
Braibanti
Chiara
C
Gelmini
Francesca
F
Forzano
Roberta
R
Pietrobono
Maria Grazia
MG
Pomponi
Elena
E
Andreucci
Annick
A
Toutain
Andrea
A
Superti-Furga
Giovanni
G
Neri
D001145:Arrhythmias, Cardiac / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D017353:Gene Deletion; D040181:Genetic Diseases, X-Linked; D005877:Gigantism / Q000175:diagnosis* / Q000235:genetics; D053673:Glypicans / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009264:Nails, Malformed / Q000235:genetics*; D010375:Pedigree; D012272:Ribs / Q000002:abnormalities*
C105937:GPC3 protein, human; D053673:Glypicans