Abstract
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.
Lingua originale | English |
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pagine (da-a) | 2245-2249 |
Numero di pagine | 5 |
Rivista | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A |
Stato di pubblicazione | Pubblicato - 2012 |
Keywords
- Simpson-Golabi-Behmel