Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
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
Publication types: Case Reports ; Journal Article Editeur indique : Clinical Report.
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.
Arrhythmias, Cardiac/diagnosis, Arrhythmias, Cardiac/genetics, Female, Fingers/abnormalities, Gene Deletion, Gigantism/diagnosis, Gigantism/genetics, Glypicans/genetics, Heart Defects, Congenital/diagnosis, Heart Defects, Congenital/genetics, Humans, Infant, Newborn, Infant, Premature, Intellectual Disability/diagnosis, Intellectual Disability/genetics, Male, Nails, Malformed/genetics, Pedigree, Ribs/abnormalities
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