Escobar Syndrome Mimicing Congenital Patellar Syndrome
Author(s) -
Naci Ezirmik,
Kadri Yildiz,
Cahit Emre Can
Publication year - 2012
Publication title -
eurasian journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.337
H-Index - 13
eISSN - 1308-8742
pISSN - 1308-8734
DOI - 10.5152/eajm.2012.26
Subject(s) - medicine , charge syndrome , dermatology , psychiatry
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.
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