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Chondrodystrophia Calcificans Congenita (Dysplasia Epiphysalis Punctata): Recognition of the Clinical Picture

Chondrodystrophia Calcificans Congenita (Dysplasia Epiphysalis Punctata): Recognition of the... Abstract Chondrodystrophia calcificans congenita is a poorly understood and infrequently recognized condition. Early diagnosis is important for genetic counseling and proper management. Two living patients and three autopsied cases were studied. All had pathognomonic facies with deficient nasal bones producing a saddle nose deformity, micromelia, rhizomelia, and characteristic roentgenograms in the first year of life with punctate deposits of calcium in the preosseous and osseous cartilage of the body. Neurological manifestations were common. One with cerebral atrophy had spastic diplegia, optic atrophy, and severe psychomotor retardation, and another had a Dandy-Walker malformation. Cataracts, congenital heart disease, joint contractures, dislocated hips, skin rash with alopecia, and failure to thrive resulting in early death were also observed. Multisystem involvement suggests an underlying inborn error of metabolism. References 1. Conradi E: Vorzeitiges Auftreten von Knochen und eigenartigen Verkalkungskernen bei Chondrodystrophia fotalis hypoplastica, Histologische und Röntgenuntersuchungen . J Kinderheilk 80:86-97, 1914. 2. Rubin P: Dynamic Classification of Bone Dysplasias . Chicago, Year Book Medical Publishers Inc, 1964, p 120. 3. Silverman FN: Dysplaisies épipihysaires: Entité protéiforme . Ann Radiol 4: 833-867, 1961. 4. Swoboda W: Beitrag zur Chondrodystrophia calcificans congenita . Ann Pediat 175:322-342, 1950. 5. Comings DE, Papazian C, Schoene HR: Conradi's disease . J Pediat 72:63-69, 1968.Crossref 6. Allensmith M, Senz E: Chondrodystrophia congenita punctata (Conradi's disease) . Amer J Dis Child 100:109-116, 1960.Crossref 7. Kucsko L: Zur Frage der formalen Geneze der sogenannten Chondroangiopathia calcarea seu punctata (Uchlinger-Cocchi) . Wien Klin Wschr 70:308-311, 1958. 8. Mosekilde E: "Stippled epiphyses" in the newborn and in infants . Acta Radiol 37:291-307, 1952.Crossref 9. Ford SD, Schneider M, Brandon JR: Congenital stippled epiphyses . Pediatrics 8:380-392, 1951. 10. Josephson BM, Oriatti, MD: Chondrodystrophia calcificans congenita . Pediatrics 28:425-435, 1961. 11. Maitland DG: Punctate epiphyseal dysplasia occurring in two members of the same family . Brit J Radiol 12:91-93, 1939.Crossref 12. Melnick JC: Chondrodystrophia calcificans congenita . Amer J Dis Child 110: 218-225, 1965.Crossref 13. Savignac EM: Chondrodystrophia calcificans congenita . Radiology 58:415-420, 1952. 14. Schonenberg H, Schallock S: Chondrodystrophia calcificans congenita: Relation to fetal chondroplasia . Ann Pediat 180:129-162, 1953. 15. Vinke TH, Duffy FP: Chondrodystrophia calcificans congenita . J Bone Joint Surg 29:509-514, 1947. 16. Yakovac WC: Calcareous Chondropathies in the newborn infant . Arch Path 57:62-79, 1954. 17. Armaly MF: Ocular involvement in chondrodystrophia calcificans congenita punctata . Arch Ophthal 57:491-502, 1957.Crossref 18. Fraser FC, Scriver JB: A hereditary factor in chondrodystrophia calcificans congenita . New Eng J Med 250:272-277, 1954.Crossref 19. Raap G: Chondrodystrophia calcificans congenita . Amer J Roentgen 49:77-84, 1943. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Chondrodystrophia Calcificans Congenita (Dysplasia Epiphysalis Punctata): Recognition of the Clinical Picture

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Publisher
American Medical Association
Copyright
Copyright © 1970 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1970.02100050124006
Publisher site
See Article on Publisher Site

Abstract

Abstract Chondrodystrophia calcificans congenita is a poorly understood and infrequently recognized condition. Early diagnosis is important for genetic counseling and proper management. Two living patients and three autopsied cases were studied. All had pathognomonic facies with deficient nasal bones producing a saddle nose deformity, micromelia, rhizomelia, and characteristic roentgenograms in the first year of life with punctate deposits of calcium in the preosseous and osseous cartilage of the body. Neurological manifestations were common. One with cerebral atrophy had spastic diplegia, optic atrophy, and severe psychomotor retardation, and another had a Dandy-Walker malformation. Cataracts, congenital heart disease, joint contractures, dislocated hips, skin rash with alopecia, and failure to thrive resulting in early death were also observed. Multisystem involvement suggests an underlying inborn error of metabolism. References 1. Conradi E: Vorzeitiges Auftreten von Knochen und eigenartigen Verkalkungskernen bei Chondrodystrophia fotalis hypoplastica, Histologische und Röntgenuntersuchungen . J Kinderheilk 80:86-97, 1914. 2. Rubin P: Dynamic Classification of Bone Dysplasias . Chicago, Year Book Medical Publishers Inc, 1964, p 120. 3. Silverman FN: Dysplaisies épipihysaires: Entité protéiforme . Ann Radiol 4: 833-867, 1961. 4. Swoboda W: Beitrag zur Chondrodystrophia calcificans congenita . Ann Pediat 175:322-342, 1950. 5. Comings DE, Papazian C, Schoene HR: Conradi's disease . J Pediat 72:63-69, 1968.Crossref 6. Allensmith M, Senz E: Chondrodystrophia congenita punctata (Conradi's disease) . Amer J Dis Child 100:109-116, 1960.Crossref 7. Kucsko L: Zur Frage der formalen Geneze der sogenannten Chondroangiopathia calcarea seu punctata (Uchlinger-Cocchi) . Wien Klin Wschr 70:308-311, 1958. 8. Mosekilde E: "Stippled epiphyses" in the newborn and in infants . Acta Radiol 37:291-307, 1952.Crossref 9. Ford SD, Schneider M, Brandon JR: Congenital stippled epiphyses . Pediatrics 8:380-392, 1951. 10. Josephson BM, Oriatti, MD: Chondrodystrophia calcificans congenita . Pediatrics 28:425-435, 1961. 11. Maitland DG: Punctate epiphyseal dysplasia occurring in two members of the same family . Brit J Radiol 12:91-93, 1939.Crossref 12. Melnick JC: Chondrodystrophia calcificans congenita . Amer J Dis Child 110: 218-225, 1965.Crossref 13. Savignac EM: Chondrodystrophia calcificans congenita . Radiology 58:415-420, 1952. 14. Schonenberg H, Schallock S: Chondrodystrophia calcificans congenita: Relation to fetal chondroplasia . Ann Pediat 180:129-162, 1953. 15. Vinke TH, Duffy FP: Chondrodystrophia calcificans congenita . J Bone Joint Surg 29:509-514, 1947. 16. Yakovac WC: Calcareous Chondropathies in the newborn infant . Arch Path 57:62-79, 1954. 17. Armaly MF: Ocular involvement in chondrodystrophia calcificans congenita punctata . Arch Ophthal 57:491-502, 1957.Crossref 18. Fraser FC, Scriver JB: A hereditary factor in chondrodystrophia calcificans congenita . New Eng J Med 250:272-277, 1954.Crossref 19. Raap G: Chondrodystrophia calcificans congenita . Amer J Roentgen 49:77-84, 1943.

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Feb 1, 1970

References