A new finding in a patient with Mowat Wilson syndrome: peripupillary atrophy and gingival hypertrophy.
Genet Couns
; 24(1): 61-8, 2013.
Article
em En
| MEDLINE
| ID: mdl-23610866
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.
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Base de dados:
MEDLINE
Assunto principal:
Retina
/
Hipertrofia Gengival
/
Doença de Hirschsprung
/
Deficiência Intelectual
/
Microcefalia
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article