Schinzel-Giedion Syndrome in Two Brazilian Patients: Report of a Novel Mutation in SETBP1 and Literature Review of the Clinical Features

作者：Carvalho Ellaine^*; Honjo Rachel; Magalhaes Monize; Yamamoto Guilherme; Rocha Katia; Naslavsky Michel; Zatz Mayana; Passos Bueno Maria Rita; Kim Chong; Bertola Debora

来源：American Journal of Medical Genetics, Part A, 2015, 167(5): 1039-1046.

DOI：10.1002/ajmg.a.36789

• Schinzel-Giedion syndrome
• clinical features
• facial gestalt
• SETBP1

Schinzel-Giedion syndrome is a rare autosomal dominant disorder comprising postnatal growth failure, profound developmental delay, seizures, facial dysmorphisms, genitourinary, skeletal, neurological, and cardiac defects. It was recently revealed that Schinzel-Giedion syndrome is caused by de novo mutations in SETBP1, but there are few reports of this syndrome with molecular confirmation. We describe two unrelated Brazilian patients with Schinzel-Giedion syndrome, one of them carrying a novel mutation. We also present a review of clinical manifestations of the syndrome, comparing our cases to patients reported in literature emphasizing the importance of the facial gestalt associated with neurological involvement for diagnostic suspicion of this syndrome.

• 出版日期2015-5