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Thanatophoric Dwarfism

Thanatophoric Dwarfism Abstract In 1967, Maroteaux et al1 described a specific chondrodystrophy which they named thanatophoric (death producing) dwarfism, since it results in death shortly after birth. This disorder, which had previously been confused with achondroplasia, is characterized by severe micromelia and narrowing of the thorax. They described four cases and culled 17 others from the literature and personal communications. Further cases have since been described by Giedion,2 Langer et al,3 and Beaudoing et al,4 and Langer et al3 called attention to a case previously described by Cronberg.5 This report presents the clinical, radiographic, and autopsy findings of a case of thanatophoric dwarfism detected prenatally by radiologic examination and discusses the differentiation of this disorder from other forms of congenital short-limbed dwarfism. Report of a Case A 23-year-old white woman, whose pregnancy was reported to be 45 weeks in length, was admitted to St. Louis Maternity Hospital References 1. Maroteaux P, Lamy M, Robert J: Le nanisme thanatophore . Presse Med 75:2519-2524, 1967. 2. Giedion A: Thanatophoric dwarfism . Helv Paediat Acta 23:175-183, 1968. 3. Langer LO, Spranger JW, Greinacher I, et al: Thanatophoric dwarfism: A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia . Radiology 92:285-303, 1969.Crossref 4. Beaudoing A, Bost M, Pont J, et al: Nanisme thanatophore: Une observation anatomo-clinique . Pediatric 24:459-461, 1969. 5. Cronberg NE: A case of chondrodystrophia foetalis, diagnosed by x-ray examination before delivery . Acta Obstet Gynec Scand 13:275-282, 1933.Crossref 6. Zellweger H, Taylor B: Genetic aspects of achondroplasia . J Lancet 85:8-16, 1965. 7. Rimoin DL, Hughes GNF, Kaufman RL, et al: The chondrodystrophies—clinical and histopathological correlations . J Lab Clin Med 74:1002, 1969. 8. Singleton J, Levey H: Achondroplasia fetalis . Amer J Obstet Gynec 35:657-661, 1938. 9. Brown WH, Pearce LJ: Hereditary achondroplasia in the rabbit: I. Physical appearance and general features . J Exp Med 82:241-260, 1945.Crossref 10. Pearce LJ, Brown WH: Hereditary achondroplasia in the rabbit: II. Pathologic aspects . J Exp Med 82:261-280, 1945.Crossref 11. Pearce LJ, Brown WH: Hereditary achondroplasia in the rabbit: III. Genetic aspects, general considerations . J Exp Med 82:281-295, 1945.Crossref 12. Shepard TH, Fry LR, Moffett BC Jr: Microscopic studies of achondroplastic rabbit cartilage . Teratology 2:13-22, 1969.Crossref 13. Silverman FN: A differential diagnosis of achondroplasia . Radiol Clin N Amer 6:223-237, 1968. 14. Hall JG, Dorst JP, Taybi H, et al: Two probable cases of homozygosity for the achondroplasia gene . Birth Defects Original Article Series 5 4:24-34, 1969. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

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Publisher
American Medical Association
Copyright
Copyright © 1970 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1970.02100060087013
Publisher site
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Abstract

Abstract In 1967, Maroteaux et al1 described a specific chondrodystrophy which they named thanatophoric (death producing) dwarfism, since it results in death shortly after birth. This disorder, which had previously been confused with achondroplasia, is characterized by severe micromelia and narrowing of the thorax. They described four cases and culled 17 others from the literature and personal communications. Further cases have since been described by Giedion,2 Langer et al,3 and Beaudoing et al,4 and Langer et al3 called attention to a case previously described by Cronberg.5 This report presents the clinical, radiographic, and autopsy findings of a case of thanatophoric dwarfism detected prenatally by radiologic examination and discusses the differentiation of this disorder from other forms of congenital short-limbed dwarfism. Report of a Case A 23-year-old white woman, whose pregnancy was reported to be 45 weeks in length, was admitted to St. Louis Maternity Hospital References 1. Maroteaux P, Lamy M, Robert J: Le nanisme thanatophore . Presse Med 75:2519-2524, 1967. 2. Giedion A: Thanatophoric dwarfism . Helv Paediat Acta 23:175-183, 1968. 3. Langer LO, Spranger JW, Greinacher I, et al: Thanatophoric dwarfism: A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia . Radiology 92:285-303, 1969.Crossref 4. Beaudoing A, Bost M, Pont J, et al: Nanisme thanatophore: Une observation anatomo-clinique . Pediatric 24:459-461, 1969. 5. Cronberg NE: A case of chondrodystrophia foetalis, diagnosed by x-ray examination before delivery . Acta Obstet Gynec Scand 13:275-282, 1933.Crossref 6. Zellweger H, Taylor B: Genetic aspects of achondroplasia . J Lancet 85:8-16, 1965. 7. Rimoin DL, Hughes GNF, Kaufman RL, et al: The chondrodystrophies—clinical and histopathological correlations . J Lab Clin Med 74:1002, 1969. 8. Singleton J, Levey H: Achondroplasia fetalis . Amer J Obstet Gynec 35:657-661, 1938. 9. Brown WH, Pearce LJ: Hereditary achondroplasia in the rabbit: I. Physical appearance and general features . J Exp Med 82:241-260, 1945.Crossref 10. Pearce LJ, Brown WH: Hereditary achondroplasia in the rabbit: II. Pathologic aspects . J Exp Med 82:261-280, 1945.Crossref 11. Pearce LJ, Brown WH: Hereditary achondroplasia in the rabbit: III. Genetic aspects, general considerations . J Exp Med 82:281-295, 1945.Crossref 12. Shepard TH, Fry LR, Moffett BC Jr: Microscopic studies of achondroplastic rabbit cartilage . Teratology 2:13-22, 1969.Crossref 13. Silverman FN: A differential diagnosis of achondroplasia . Radiol Clin N Amer 6:223-237, 1968. 14. Hall JG, Dorst JP, Taybi H, et al: Two probable cases of homozygosity for the achondroplasia gene . Birth Defects Original Article Series 5 4:24-34, 1969.

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Jul 1, 1970

References