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
Copyright policy )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
AbstractThe 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. © 2012 Wiley Periodicals, Inc.
- François Rabelais University France
- Catholic University of the Sacred Heart Italy
- University of Lausanne Switzerland
- ISTITUTO DI RICOVERO E CURA A CARATTERE SCIENTIFICO BURLO GAROFOLO Italy
- Catholic University of America United States
Heart Defects, Congenital, Male, Infant, Newborn, Nails, Malformed, Arrhythmias, Cardiac, Genetic Diseases, X-Linked, Ribs, Gigantism, Pedigree, Fingers, Glypicans, Intellectual Disability, Humans, Simpson-Golabi-Behmel, Female, Gene Deletion, Infant, Premature
Heart Defects, Congenital, Male, Infant, Newborn, Nails, Malformed, Arrhythmias, Cardiac, Genetic Diseases, X-Linked, Ribs, Gigantism, Pedigree, Fingers, Glypicans, Intellectual Disability, Humans, Simpson-Golabi-Behmel, Female, Gene Deletion, Infant, Premature
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