Terminal transverse defects with orofacial malformations (TTV-OFM): case report with mandibular prognathism and submucous cleft palate.
Terminal transverse defects of varying severity, ranging from aplasia of phalanges and digits to hemimelia, have been reported in association with various orofacial malformation. Temtamy and McKusick (1978) introduced the term "terminal transverse defects with orofacial malformations (TTV-OFM)" as a formal genesis syndrome (etiologically undefined) to include the following clinical entities: (1) aglossia-adactylia syndrome; (2) ankyloglossum (superius) syndrome; (3) Hanhart syndrome; (4) ectrodactyly with OFM; and (5) Möbius syndrome with digital malformations (including the Charlie "M" syndrome). This report describes a patient whose phenotypic characteristics qualify for inclusion under this heading, but with facial features somewhat different from those previously reported in the literature including the presence of an eccentric submucous cleft of the hard palate and zona pellucida of the soft palate.
D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D002972:Cleft Palate / Q000473:pathology*; D005260:Female; D006801:Humans; D009958:Orofaciodigital Syndromes / Q000000981:diagnostic imaging / Q000473:pathology*; D011378:Prognathism / Q000473:pathology*; D011859:Radiography