title: Oculodentodigital dysplasia. Four new reports and a literature review.
abstract: Four new patients with oculodentodigital dysplasia (ODD) have been examined. The salient and fairly constant features of ODD appear to be (1) unique facial appearance, (2) microcornea with other inconstant ocular findings, (3) syndactyly of the hands with additional characteristic phalangeal aberrations, (4) diffuse skeletal dysplasia, (5) enamel dysplasia, and (6) trichosis. Echographic studies indicate that ODD globes have microcornea with otherwise normal dimensions. An increased number of vessels crossing the optic discs was observed in three patients from one family. The distance between the inner canthi and the medial orbital walls in three patients we studied suggests that previous reports of hypertelorism may have been illusions resulting from microcornea, small palpebral fissures, and variably present epicanthus.
mesh_terms: D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003315:Cornea / Q000002:abnormalities; D003744:Dental Enamel Hypoplasia; D005145:Face; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006197:Hair; D006345:Heart Septal Defects, Ventricular / Q000150:complications; D006801:Humans; D007021:Hypospadias / Q000150:complications; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities; D008297:Male; D008850:Microphthalmos / Q000150:complications*; D010375:Pedigree; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D013576:Syndactyly / Q000150:complications* / Q000235:genetics; D013577:Syndrome