title: A new finding in a patient with Mowat Wilson syndrome: peripupillary atrophy and gingival hypertrophy.
abstract: 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. We report a two-year-old boy with multiple congenital anomalies. He had peripupillary atrophy and gingival hypertrophy different from the literature. The patient was also diagnosed with his clinical findings. These features may be important in Mowat-Wilson syndrome and clinicians should keep these findings in mind.
authors.affiliation: Maternity and Children Hospital, Medical Genetics Department, Mersin, Turkey. aslihan_ak@yahoo.com
authors.forename: A
authors.initials: A
authors.lastname: Kiraz
authors.forename: O
authors.initials: O
authors.lastname: Aldemir
authors.forename: Y
authors.initials: Y
authors.lastname: Karabulut
authors.forename: C
authors.initials: C
authors.lastname: Turan
authors.forename: M
authors.initials: M
authors.lastname: Dundar
mesh_terms: D001284:Atrophy / Q000175:diagnosis / Q000473:pathology; D002675:Child, Preschool; D019066:Facies; D005886:Gingival Hypertrophy / Q000150:complications* / Q000175:diagnosis*; D006627:Hirschsprung Disease / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000175:diagnosis*; D008297:Male; D008831:Microcephaly / Q000150:complications* / Q000175:diagnosis*; D012160:Retina / Q000473:pathology*