[Metaphyseal chondrodysplasia with atypical vertebral changes in a case of anorchism (author's transl)].
A case of metaphyseal chondrodysplasia with testicular dysgenesis, hair aplasia, hormonal and somatic features partially indicative of Noonan's syndrome, followed from 6 to 14 years, is described. The associated vertebral changes can be referred to same chondrodysplasic process; persistence of intermediate cartilage and precocious discal damage contribute in vertebral morphogenesis.
D000293:Adolescent; D000505:Alopecia / Q000151:congenital / Q000000981:diagnostic imaging; D002648:Child; D006059:Gonadal Dysgenesis / Q000000981:diagnostic imaging*; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000151:congenital / Q000000981:diagnostic imaging*; D011859:Radiography; D013122:Spinal Diseases / Q000151:congenital / Q000000981:diagnostic imaging*; D013577:Syndrome; D013737:Testis / Q000002:abnormalities* / Q000000981:diagnostic imaging*
Condrodisplasia metafisaria con alterazioni vertebrali atipiche in un caso di anorchidismo congenito.