Schinzel–Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. (7th February 2015)

• Record Type: Journal Article
• Authors: Carvalho, Ellaine; Honjo, Rachel; Magalhães, Monize; Yamamoto, Guilherme; Rocha, Katia; Naslavsky, Michel; Zatz, Mayana; Passos‐Bueno, Maria Rita; Kim, Chong; Bertola, Debora
• Is Part Of: American journal of medical genetics. Volume 167:Number 5(2015:May)
• Page Start: 1039
• Page End: 1046
• Publication Date: 2015-02-07
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36789
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36789-sec-0001" sec-type="section"> <p>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 <italic>SETBP1</italic>, 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. © 2015 Wiley Periodicals, Inc.</p> </sec> </abstract>