Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

摘要

Thoraco-abdominal and Facial Photographs of 4 PBS affected individuals with mutations. ) Pedigree 1 Subject 1 (p.C2160R) has a RUBACE severity score of 22 and syndromic PBS with additional OPDSD features including prominent supraorbital ridge and micrognathia ( ). B1-B2) Pedigree 1 Subject 2 (p.c2160R) has a RUBACE severity score of 24 as well as syndromic PBS with OPDSD phenotypic features including prominent supraorbital ridge, micrognathia, facial asymmetry ( ). He additionally has Pierre Robin Sequence. ) Pedigree 2 Subject 3 (p.A1448V) has a RUBACE severity score of 14 (isolated PBS). No strong OPDSD craniofacial features are noted ( ). D1-D2) Pedigree 3 Subject 4 (p.G2236E) has a RUBACE severity score of 13 (isolated PBS). No strong OPDSD craniofacial features are noted ( )