Conradi Syndrome
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)
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; 14:144-147.
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.
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; 14:144-147.
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.
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