| Literature DB >> 25610221 |
Naci Ezirmik1, Kadri Yildiz1, Cahit Emre Can1.
Abstract
Multiple pterygium syndrome (MPS) is a syndrome that is characterized abnormal face, short length and skin pterygiums on some body legions (servical, antecubital, popliteal, interdigital and on neck). It is also called as Pterygium Colli syndrome, Escobar syndrome or Pterygium syndrome. Escobar (multyple pterygium) syndrome is a rare syndrome. Intrauterin growth reterdation, abnormal face, wide-spead pterygiums that resulted in joint contractures, ptosis, chryptoorchidism, patellar dysplasia and foot deformities are seen on this syndrome. Primarly autosomal resesive crossing are observed; also autosomal dominant and X-linked crossing. This case were presented as it has components of Escobar syndrome and Isolated Patellar Aplasia syndrome in same time.Entities:
Keywords: Escobar syndrome; Isolated Patellar Aplasia syndrome; Pterygium syndrome
Year: 2012 PMID: 25610221 PMCID: PMC4261289 DOI: 10.5152/eajm.2012.26
Source DB: PubMed Journal: Eurasian J Med ISSN: 1308-8734