STAR syndrome plus: The first description of a female patient with the lethal form. Issue 12 (31st October 2017)

• Record Type: Journal Article
• Authors: Bedeschi, Maria F.; Giangiobbe, Sara; Paganini, Leda; Tabano, Silvia; Silipigni, Rosamaria; Colombo, Lorenzo; Crippa, Beatrice L.; Lalatta, Faustina; Guerneri, Silvana; Miozzo, Monica
• Is Part Of: American journal of medical genetics. Volume 173:Issue 12(2017)
• Page Start: 3226
• Page End: 3230
• Publication Date: 2017-10-31
• Subjects: FAM58A -- STAR syndrome; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38484
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : The STAR syndrome is a rare X‐linked dominant developmental disorder caused by point mutations in the single FAM58A gene or deletions involving FAM58A and its flanking genes. The STAR phenotype is characterized by a rather homogeneous constellation of facial dysmorphisms and malformations summarized by its acronym, Syndactyly, Telecanthus, Anogenital, and Renal malformations. Here we describe a female patient with STAR syndrome and a 130 kb deletion at Xq28, including the FAM58A gene. She presented with cleft lip palate, omphalocele, and cerebral malformations not previously considered part of the phenotypic spectrum of this syndrome. She died at 6 weeks from respiratory failure.