title: Orofaciodigital syndrome.
abstract: Orofaciodigital syndrome is a very rare entity with X-linked dominant inheritance characterized by oral, facial, and digital anomalies. Thirteen different types have been described in the literature to date. Of these, orofaciodigital syndrome type I has the highest incidence. Renal and central nervous system malformations may accompany the oral, facial, and digital anomalies. We report a case of orofaciodigital syndrome type I in a 9-year-old girl. The patient was admitted with a complaint unrelated to the syndrome. The coexistence of an oral anomaly with a digital anomaly in this patient led us to search for other possible anomalies. Ultrasonography revealed a diagnosis of polycystic kidneys. Physicians must be mindful of the external appearance of patients with this syndrome and be aware of life-threatening anomalies possibly associated with it.
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, Haydarpasa Numune Education and Research Hospital, Acıbadem Necipbey sokak No 28, C/4 Kadikoy, İstanbul, Turkey. drbnaib@yahoo.com
authors.forename: Baris
authors.initials: B
authors.lastname: Naiboglu
authors.forename: Cagatay
authors.initials: C
authors.lastname: Oysu
authors.forename: Tanju
authors.initials: T
authors.lastname: Gokceer
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D009958:Orofaciodigital Syndromes / Q000175:diagnosis*; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging*; D014463:Ultrasonography