Pseudo-achondroplastic variant of multiple epiphyseal dysplasia with cataract and vitiligo.
Multiple epiphyseal dysplasias may present as congenital or late-onset (tarda) forms or as the variant pseudo-achondroplastic type. While the association between cataract and skin anomalies is well known in the congenital type, it has not been reported for the late-onset type of multiple epiphyseal dysplasia. A 5 1/2-year-old child with the pseudo-achondroplastic variant of multiple epiphyseal dysplasia has been observed to have the unusual association of cataracts and vitiligo, a condition which lacked previous documentation.
D002386:Cataract / Q000150:complications*; D002675:Child, Preschool; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging; D011859:Radiography; D014820:Vitiligo / Q000150:complications*