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Long-Limbed Campomelic Dwarfism: A Radiologic and Pathologic Study

Long-Limbed Campomelic Dwarfism: A Radiologic and Pathologic Study Abstract • Comparison of the roentgenographic and pathologic features of a case of classic, long-limbed campomelic dwarfism with those of previously reported cases leads to the conclusion that the bony abnormalities in this disorder are not due to an intrinsic abnormality of cartilage formation or of osteoblast or osteoclast function. Likewise, no defect in bone collagen, ground substance, or mineralization is evident. The bowing of the long bones may be the result of poorly understood muscular stresses operative in utero. Widespread defects in other organ systems are present, with considerable variation from patient to patient. Phenotypic females with the disorder commonly suffer from gonadal dysgenesis. Autosomal recessive inheritance is suggested for a subgroup of these patients, but environmental factors may be causative in some instances. (Am J Dis Child 134:1035-1042, 1980) References 1. Maroteaux P, Spranger J, Opitz JM, et al: Le syndrome campomelique. Presse Med 79:1157-1162, 1971. 2. Lee FA, Isaacs H Jr, Strauss J: The "campomelic" syndrome . Am J Dis Child 124:485-496, 1972.Crossref 3. Khajavi A, Lachman R, Rimoin D, et al: Heterogeneity in the campomelic syndromes: Long- and short-bone varieties . Radiology 120:641-647, 1976. 4. Middleton DS: Studies of prenatal lesions of striated muscle as a cause of congenital deformity . Edinburgh Med J 41:401-442, 1934. 5. Williams ER: Two congenital deformities of the tibia: Congenital angulation and congenital pseudoarthrosis . Br J Radiol 16:371-376, 1943.Crossref 6. Bound JP, Finlay HVL, Rose FC: Congenital anterior angulation of tibia . Arch Dis Child 27:179-184, 1952.Crossref 7. Bain AD, Barrett HS: Congenital bowing of the long bones: Report of a case . Arch Dis Child 34:516-524, 1959.Crossref 8. Bianchine JW, Risemberg HM, Kanderian SS, et al: Camptomelic dwarfism . Lancet 1:1017-1018, 1971.Crossref 9. Gardner LI, Assemany SR, Neu RL: Syndrome of multiple osseous defects with pretibial dimples . Lancet 2:98, 1971.Crossref 10. Cremin BJ, Orsmond G, Beighton P: Autosomal recessive inheritance in camptomelic dwarfism . Lancet 1:488-489, 1973.Crossref 11. Hoefnagel D, Wurster D, Carey D, et al: Camptomelic dwarfism . Lancet 1:1068, 1972.Crossref 12. Schmickel RD, Heidelberger KP, Poznanski AK: The campomelique syndrome . J Pediatr 82:299-302, 1973.Crossref 13. Thurmon TF, de Fraites EB, Anderson EE: Familial camptomelic dwarfism . J Pediatr 83:841-843, 1973.Crossref 14. Storer J, Grossman H: The campomelic syndrome: Congenital bowing of limbs and other skeletal and extraskeletal anomalies . Radiology 111:673-681, 1974. 15. Shafai I, Schwartz L: Camptomelic syndrome in siblings . J Pediatr 89:512-513, 1976.Crossref 16. Weiner DS, Benfield G, Robinson H: Camptomelic dwarfism: Report of a case and review of the salient features . Clin Orthop 116:29-31, 1976. 17. Hovmoller ML, Osuna A, Eklof O, et al: Camptomelic dwarfism: A genetically determined mesenchymal disorder combined with sex reversal . Hereditas 86:51-62, 1977.Crossref 18. Ameri MR, Alebouyeh M, Amirfeyz M, et al: Das kampomele syndrom . Monatsschr Kinderheilkd 126:687-689, 1978. 19. Kozlowski K, Butzler HO, Galatius-Jensen F, et al: Syndromes of congenital bowing of the long bones . Pediatr Radiol 7:40-48, 1978.Crossref 20. Krous HF, Turbeville DF, Altshuler GP: Campomelic syndrome: Possible role of intrauterine viral infection . Teratology 19:9-14, 1979.Crossref 21. Maresh MM: Linear growth of long bones of extremities from infancy through adolescence . Am J Dis Child 89:725-742, 1955. 22. Simril WA, Thurston D: The normal interpediculate space in the spines of infants and children . Radiology 64:340-347, 1955. 23. Caffey J, Ross S: Pelvic bones in infantile mongoloidism: Roentgenographic features . AJR 80:458-467, 1958. 24. Hansman CF: Growth of interorbital distance and skull thickness as observed in roentgenographic measurements . Radiology 86:87-96, 1966. 25. Hoefnagel D, Wurster-Hill DH, Dupree WB, et al: Camptomelic dwarfism associated with XY-gonadal dysgenesis and chromosome anomalies . Clin Genet 13:489-499, 1978.Crossref 26. Thurmon TF, Kityakara A: Camptomelic Dwarfism . Birth defects original article series, New York, National Foundation March of Dimes, 1974, vol 10, No. 9, pp 89-95. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Long-Limbed Campomelic Dwarfism: A Radiologic and Pathologic Study

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Publisher
American Medical Association
Copyright
Copyright © 1980 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1980.02130230015005
Publisher site
See Article on Publisher Site

Abstract

Abstract • Comparison of the roentgenographic and pathologic features of a case of classic, long-limbed campomelic dwarfism with those of previously reported cases leads to the conclusion that the bony abnormalities in this disorder are not due to an intrinsic abnormality of cartilage formation or of osteoblast or osteoclast function. Likewise, no defect in bone collagen, ground substance, or mineralization is evident. The bowing of the long bones may be the result of poorly understood muscular stresses operative in utero. Widespread defects in other organ systems are present, with considerable variation from patient to patient. Phenotypic females with the disorder commonly suffer from gonadal dysgenesis. Autosomal recessive inheritance is suggested for a subgroup of these patients, but environmental factors may be causative in some instances. (Am J Dis Child 134:1035-1042, 1980) References 1. Maroteaux P, Spranger J, Opitz JM, et al: Le syndrome campomelique. Presse Med 79:1157-1162, 1971. 2. Lee FA, Isaacs H Jr, Strauss J: The "campomelic" syndrome . Am J Dis Child 124:485-496, 1972.Crossref 3. Khajavi A, Lachman R, Rimoin D, et al: Heterogeneity in the campomelic syndromes: Long- and short-bone varieties . Radiology 120:641-647, 1976. 4. Middleton DS: Studies of prenatal lesions of striated muscle as a cause of congenital deformity . Edinburgh Med J 41:401-442, 1934. 5. Williams ER: Two congenital deformities of the tibia: Congenital angulation and congenital pseudoarthrosis . Br J Radiol 16:371-376, 1943.Crossref 6. Bound JP, Finlay HVL, Rose FC: Congenital anterior angulation of tibia . Arch Dis Child 27:179-184, 1952.Crossref 7. Bain AD, Barrett HS: Congenital bowing of the long bones: Report of a case . Arch Dis Child 34:516-524, 1959.Crossref 8. Bianchine JW, Risemberg HM, Kanderian SS, et al: Camptomelic dwarfism . Lancet 1:1017-1018, 1971.Crossref 9. Gardner LI, Assemany SR, Neu RL: Syndrome of multiple osseous defects with pretibial dimples . Lancet 2:98, 1971.Crossref 10. Cremin BJ, Orsmond G, Beighton P: Autosomal recessive inheritance in camptomelic dwarfism . Lancet 1:488-489, 1973.Crossref 11. Hoefnagel D, Wurster D, Carey D, et al: Camptomelic dwarfism . Lancet 1:1068, 1972.Crossref 12. Schmickel RD, Heidelberger KP, Poznanski AK: The campomelique syndrome . J Pediatr 82:299-302, 1973.Crossref 13. Thurmon TF, de Fraites EB, Anderson EE: Familial camptomelic dwarfism . J Pediatr 83:841-843, 1973.Crossref 14. Storer J, Grossman H: The campomelic syndrome: Congenital bowing of limbs and other skeletal and extraskeletal anomalies . Radiology 111:673-681, 1974. 15. Shafai I, Schwartz L: Camptomelic syndrome in siblings . J Pediatr 89:512-513, 1976.Crossref 16. Weiner DS, Benfield G, Robinson H: Camptomelic dwarfism: Report of a case and review of the salient features . Clin Orthop 116:29-31, 1976. 17. Hovmoller ML, Osuna A, Eklof O, et al: Camptomelic dwarfism: A genetically determined mesenchymal disorder combined with sex reversal . Hereditas 86:51-62, 1977.Crossref 18. Ameri MR, Alebouyeh M, Amirfeyz M, et al: Das kampomele syndrom . Monatsschr Kinderheilkd 126:687-689, 1978. 19. Kozlowski K, Butzler HO, Galatius-Jensen F, et al: Syndromes of congenital bowing of the long bones . Pediatr Radiol 7:40-48, 1978.Crossref 20. Krous HF, Turbeville DF, Altshuler GP: Campomelic syndrome: Possible role of intrauterine viral infection . Teratology 19:9-14, 1979.Crossref 21. Maresh MM: Linear growth of long bones of extremities from infancy through adolescence . Am J Dis Child 89:725-742, 1955. 22. Simril WA, Thurston D: The normal interpediculate space in the spines of infants and children . Radiology 64:340-347, 1955. 23. Caffey J, Ross S: Pelvic bones in infantile mongoloidism: Roentgenographic features . AJR 80:458-467, 1958. 24. Hansman CF: Growth of interorbital distance and skull thickness as observed in roentgenographic measurements . Radiology 86:87-96, 1966. 25. Hoefnagel D, Wurster-Hill DH, Dupree WB, et al: Camptomelic dwarfism associated with XY-gonadal dysgenesis and chromosome anomalies . Clin Genet 13:489-499, 1978.Crossref 26. Thurmon TF, Kityakara A: Camptomelic Dwarfism . Birth defects original article series, New York, National Foundation March of Dimes, 1974, vol 10, No. 9, pp 89-95.

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Nov 1, 1980

References