title: Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.
abstract: 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.
authors: Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil.
authors: Ellaine
authors: E
authors: Carvalho
authors: Rachel
authors: R
authors: Honjo
authors: Monize
authors: M
authors: Magalhães
authors: Guilherme
authors: G
authors: Yamamoto
authors: Katia
authors: K
authors: Rocha
authors: Michel
authors: M
authors: Naslavsky
authors: Mayana
authors: M
authors: Zatz
authors: Maria Rita
authors: MR
authors: Passos-Bueno
authors: Chong
authors: C
authors: Kim
authors: Debora
authors: D
authors: Bertola
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D001938:Brazil; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000503:physiopathology; D005145:Face / Q000503:physiopathology*; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D006869:Hydronephrosis / Q000235:genetics / Q000503:physiopathology; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation; D009264:Nails, Malformed / Q000235:genetics* / Q000503:physiopathology; D009687:Nuclear Proteins / Q000235:genetics*; D012640:Seizures / Q000235:genetics / Q000503:physiopathology; D017422:Sequence Analysis, DNA
chemical_list: D002352:Carrier Proteins; D009687:Nuclear Proteins; C425066:SETBP1 protein, human
keywords: SETBP1; Schinzel-Giedion syndrome; clinical features; facial gestalt