Conradi syndrome (multiple epiphyseal dysplasia congenita; dysplasia epiphysealis congenita; chondrodystrophia foetalis hypoplastica; calcinosis universalis; congenital calcifying chondrodystrophy; stippled epiphyses syndrome; conradi-hünermann syndrome; chondrodysplasia punctata) 291

General: Autosomal recessive; manifestations within the first 6 months of life; epiphyseal stippling present at birth; perinatal manifestations include disorganization of the spine, premature echogenicity of femoral epiphyses, and frontal bossing with depressed nasal bridge.

Ocular: Hypertelorism; heterochromia iridis (rare); bilateral total congenital cataract appearing at or shortly after birth; primary optic atrophy (rare); bilateral corneal punctate erosions.

Clinical: Short limbs (mainly proximal part) resulting in 'short-limbed dwarfism'; deformities of hip, knee, and elbow joints by contraction and immobility, and possible transformation of muscles into fibrous tissue as a result; congenital heart defect with calcium deposits in the cardiac valves; skin anomalies (dyskeratosis); mental retardation.

Bellson FA. Optic nerve hypoplasia in chondrodysplasia punctata. J Pediatr Ophthalmol 1977; 14:144-l47.

Conradi E. Vorzeitiges Auftreten von Knochenund Eigenartigen Verkalkungskernen bei Chondrodystrophia Fotalis Hypoplastica. Histologische un Rontgenuntersuchungen. Jahrb Kinderhk 1914; 80:86.

Happle R. Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata. Clin Genet 1981; 19:64-66.

Massey JY, Roy FH. Ocular manifestations of Conradi disease. Arch Ophthalmol 1974; 92:524.

Pryde PG, et al. Prenatal diagnosis of nonrhizomelic chondrodysplasia punctata (Conradi-Hunermann syndrome). Am J Med Genet 1993; 47:426-431.

Spierer A, Neumann D. Corneal changes in chondrodysplasia punctata syndrome. Ann Ophthalmol 1993; 25: 356-358.