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STAR syndrome plus: The first description of a female patient with the lethal form
Author(s) -
Bedeschi Maria F.,
Giangiobbe Sara,
Paganini Leda,
Tabano Silvia,
Silipigni Rosamaria,
Colombo Lorenzo,
Crippa Beatrice L.,
Lalatta Faustina,
Guerneri Silvana,
Miozzo Monica
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38484
Subject(s) - syndactyly , phenotype , genetics , medicine , craniofacial , dermatology , biology , gene
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.