| Literature DB >> 21262397 |
Leen Wouters1, Celia Maria Rodriguez Rodriguez, Elena Porta Dapena, Vincent Vander Poorten, Koen Devriendt, Hilde Van Esch.
Abstract
Congenital symmetrical circumferential skin creases are a rare feature, often described as the "Michelin Tire Baby" syndrome and in general having a good prognosis. In some patients however, the circumferential skin creases are associated with other congenital malformations. We describe 2 unrelated patients presenting with multiple circumferential skin creases, growth retardation, developmental delay, a typical facial appearance and cleft palate. In literature, 6 patients with an almost identical clinical phenotype have been described. This well recognizable syndrome should be distinguished from the "Michelin Tire Baby" syndrome and we therefore propose the term "circumferential skin creases Kunze type".Entities:
Mesh:
Year: 2011 PMID: 21262397 DOI: 10.1016/j.ejmg.2011.01.003
Source DB: PubMed Journal: Eur J Med Genet ISSN: 1769-7212 Impact factor: 2.708