[Type-II orofaciodigital syndrome. Description of a case].
There are at least four different types of Oro-facial-digital syndromes. The features of type II are bilateral polydactyly of hands, peculiar face with normal skin, hair, and intelligence. It is due to an autosomal recessive gene. We report a case of Oro-facio-digital syndrome in a four year old girl with a peculiar face and polydactyly of hand and feet, born from normal non consanguineous parents. Her mother was pregnant at the time of observation and came for an evaluation of the recurrence risk. The pregnancy was monitored by ultrasonography.
La Cava
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Gurrieri
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Mastroiacovo
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D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009958:Orofaciodigital Syndromes / Q000145:classification / Q000175:diagnosis*; D010641:Phenotype
Sindrome oro-facio-digitale tipo II. Descrizione di un caso.