A NEW FINDING IN A PATIENT WITH MOWAT WILSON SYNDROME: PERIPUPILLARY ATROPHY AND GINGIVAL HYPERTROPHY


Kiraz A., Aldemir O., Karabulut Y., TURAN C. , DÜNDAR M.

GENETIC COUNSELING, cilt.24, ss.61-68, 2013 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 24 Konu: 1
  • Basım Tarihi: 2013
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayısı: ss.61-68

Özet

A new finding in a patient with Mowat Wilson syndrome: peripupillary atrophy and gingival hypertrophy: Mowat-Wilson syndrome is a genetic disease characterized by typical facial features, Hirschsprung disease and multiple congenital abnormalities. MWS is a single gene disorder. One of the most specific clinical signs in MWS is the distinctive face.