Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia.
We report on a patient with oculo-dento-osseous dysplasia and bilateral persistence of the hyaloid system. Autosomal recessive inheritance may be the cause of this patient's condition since she was born to unaffected first-cousin parents. Ocular findings in the recessive variety of this syndrome seem to be more severe than those in the more common dominant form.
D001842:Bone and Bones / Q000000981:diagnostic imaging; D001921:Brain / Q000000981:diagnostic imaging; D003241:Consanguinity; D005124:Eye Abnormalities; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010388:Pelvis / Q000000981:diagnostic imaging; D012886:Skull / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed; D014071:Tooth Abnormalities / Q000235:genetics*