Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome?

• Published in: American journal of medical genetics. Part A 2013-08, Vol.161A (8), p.1829-1832
• Main Authors: Isidor, Bertrand, Le Meur, Guylène, Conti, Carole, Caldagues, Emmanuelle, Lainey, Elodie, Launay, Elise, Leclair, Marc David, Le Francois, Thomas, Pichon, Olivier, Boisseau, Pierre, Migraine, Audrey, Keren, Boris, Caignec, Cédric Le, Crow, Yanick J, David, Albert
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple; Bleeding; Brain Diseases - genetics; Brain Diseases - pathology; Calcinosis - genetics; Calcinosis - pathology; cerebral calcifications; Child, Preschool; duodenal atresia; Duodenal Obstruction - genetics; Duodenal Obstruction - pathology; Dwarfism - genetics; Dwarfism - pathology; Exudates and Transudates; exudative citroretinopathy; Genital Diseases, Male - genetics; Genital Diseases, Male - pathology; Humans; Male; microcephaly; Microcephaly - genetics; Microcephaly - pathology; micropenis; Penis - abnormalities; Penis - pathology; Phenotype; Polydactyly - genetics; Polydactyly - pathology; prezxial polydactyly; Retinal Telangiectasis - genetics; Retinal Telangiectasis - pathology; short stature; Syndrome; Tomography, X-Ray Computed
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.36021

The association of Coats disease with intrauterine growth retardation, intracranial calcification, leukodystrophy, brain cysts, osteopenia, and gastrointestinal bleeding defines Coats plus syndrome caused by mutations in the CTC1 gene, encoding conserved telomere maintenance component 1. Here, we report on a child with exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly, and short stature, in whom no mutations in CTC1 were found. Our patient shares some features seen in other diseases associated with telomere shortening including Hoyeraal–Hreidarsson and Revesz syndromes. We therefore measured telomere length by Flow‐Fish which was normal. The association of duodenal atresia and microcephaly also suggested a diagnosis of Feingold syndrome. However, direct sequencing of MYCN was normal, and we did not detect any hemizygous deletion of the miR‐17∼92 polycistronic miRNA cluster. To our knowledge, the phenotype we report on has not been described previously, leading us to speculate that this condition may represent a new syndrome. © 2013 Wiley Periodicals, Inc.