Online OnlyPubMed-ID: 20305860Seiten: 351, Sprache: EnglischNaikmasur, Venkatesh G. / Rai, Arpita / Revanappa, Manjunatha M. / Mutalik, SunilOrofaciodigital (OFD) syndrome is a generic name for a variety of different but possibly related genetic disorders that result in malformations of the mouth, teeth, jaw, facial bones, hands, and feet and are therefore categorized as oroacral disorders. Nine subtypes of OFD syndromes have been identified. OFD type V is known as Thurston syndrome, of which only 11 cases have been reported to date. A case is reported of a 19-year-old man with this syndrome. A brief review of previously reported cases and discussion of anomalies of the syndrome is presented.
Schlagwörter: autosomal recessive, median cleft lip, oroacral, orofaciodigital syndrome, postaxial polydactyly, Thurston syndrome