Thanatophoric Dwarfism FREE

Robert L. Kaufman, MD; David L. Rimoin, MD, PhD; William H. McAlister, MD; John M. Kissane, MD

Received for publication Feb 16, 1970.

Reprint requests to Department of Pediatrics, Division of Medical Genetics, Washington University School of Medicine, 500 S Kingshighway, St. Louis 63110 (Dr. Rimoin).

Am J Dis Child. 1970;120(1):53-57. doi:10.1001/archpedi.1970.02100060087013.

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ABSTRACT

ABSTRACT | REFERENCES

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

ABSTRACT | REFERENCES

Maroteaux P, Lamy M, Robert J: Le nanisme thanatophore . Presse Med 75:2519-2524, 1967;.

Giedion A: Thanatophoric dwarfism . Helv Paediat Acta 23:175-183, 1968;.

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;.

Beaudoing A, Bost M, Pont J, et al: Nanisme thanatophore: Une observation anatomo-clinique . Pediatric 24:459-461, 1969;.

Cronberg NE: A case of chondrodystrophia foetalis, diagnosed by x-ray examination before delivery . Acta Obstet Gynec Scand 13:275-282, 1933;.

Zellweger H, Taylor B: Genetic aspects of achondroplasia . J Lancet 85:8-16, 1965;.

Rimoin DL, Hughes GNF, Kaufman RL, et al: The chondrodystrophies—clinical and histopathological correlations . J Lab Clin Med 74:1002, 1969;.

Singleton J, Levey H: Achondroplasia fetalis . Amer J Obstet Gynec 35:657-661, 1938;.

Brown WH, Pearce LJ: Hereditary achondroplasia in the rabbit: I. Physical appearance and general features . J Exp Med 82:241-260, 1945;.

Pearce LJ, Brown WH: Hereditary achondroplasia in the rabbit: II. Pathologic aspects . J Exp Med 82:261-280, 1945;.

Pearce LJ, Brown WH: Hereditary achondroplasia in the rabbit: III. Genetic aspects, general considerations . J Exp Med 82:281-295, 1945;.

Shepard TH, Fry LR, Moffett BC Jr: Microscopic studies of achondroplastic rabbit cartilage . Teratology 2:13-22, 1969;.

Silverman FN: A differential diagnosis of achondroplasia . Radiol Clin N Amer 6:223-237, 1968;.

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;.

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