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Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity

Report of the clinical and radiological findings in two siblings

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Abstract

The authors describe two siblings, a male and a female, with disproportionate short stature, rhizomelic-mesomelic shortening of the limb bones, marked bowing of the femora, moderate bowing of the humeri, radii and ulnae, straight tibiae and fibulae, normal hands, flared cupped metaphyses of the tibiae, ulnae, radii and ribs, and narrow chest. There was some improvement of the bone changes with advancing age. These two patients are similar to five other cases from the literature and strongly support Hall and Spranger's view that this pseudocampomelic condition most likely represents a distinct familial bowing syndrome. The differential diagnosis and the hereditary aspects in the two patients, are also briefly discussed.

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References

  1. Caffey J (1947) Prenatal bowing and thickening of tubular bones, with multiple cutaneous dimples in arms and legs; a congenital syndrome of mechanical origin. Am J Dis Child 74: 543

    Google Scholar 

  2. Dagna Bricarelli F, Fraccaro M, Lindsten J, Müller U, Baggio P, Doria Lamba Carbone L, Hjerpe A, Lindgren F, Mayerovà A, Ringertz H, Ritzén EM, Rovetta DC, Sicchero C, Wolf U (1981) Sex-reversed XY females with campomelic dysplasia are H-Y negative. Hum Genet 57: 15

    Google Scholar 

  3. Fuhrmann W, Fuhrmann-Rieger A, de Sousa F (1980) Poly-, syn- and oligodactyly, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs. A new autosomal recessive syndrome. Eur J Pediatr 133: 123

    Google Scholar 

  4. Hall BD, Spranger JW (1979) Familial congenital bowing with short bones. Radiology 132: 611

    Google Scholar 

  5. Hall BD, Spranger J (1980) Congenital bowing of the long bones. A review and phenotype analysis of 13 undiagnosed cases. Eur J Pediatr 133: 131

    Google Scholar 

  6. Hall BD, Spranger JW (1980) Campomelic dysplasia. Further elucidation of a distinct entity. Am J Dis Child 134: 285

    Google Scholar 

  7. Hovmöller ML, Osuna A, Eklöf O, Fredga K, Hjerpe A, Lindsten J, Ritzén M, Stanescu V, Svenningsen N (1977) Camptomelic dwarfism. A genetically determined mesenchymal disorder combined with sex eversal. Hereditas 86: 51

    Google Scholar 

  8. International Nomenclature of Constitutional Diseases of Bone. Revision, May 1977 (1978) J Pediatr 93: 614

    Google Scholar 

  9. Khajavi A, Lachman R, Rimoin D, Schimke RN, Dorst J, Handmaker S, Ebbin A, Perreault G (1976) Heterogeneity in the campomelic syndromes. Long- and short-bone varieties. Radiology 120: 641

    Google Scholar 

  10. Kozlowski K, Bützler HO, Galatius-Jensen F, Tulloch A (1978) Syndromes of congenital bowing of the long bones. Pediatr Radiol 7: 40

    Google Scholar 

  11. Maclean RN, Prater WK, Lozzio CB (1983) Skeletal dysplasia with short angulated femora (kyphomelic dysplasia). Am J Med Genet 14: 373

    Google Scholar 

  12. Maclean RN (1983) Personal communication

  13. Maroteaux P, Spranger J, Opitz JM, Kucera J, Lowry RB, Schimke RN, Kagan M (1971) Le syndrome campomélique. Presse Med 79: 1157

    Google Scholar 

  14. Rogers JG, Cranley RE, Dorst JP, Levin LS, Williams BR (1975) A variant of campomelia. Birth Defects 11 (6): 119

    Google Scholar 

  15. Spranger J, Langer LO, Maroteaux P (1970) Increasing frequency of a syndrome of multiple osseous defects. Lancet 2: 716

    Google Scholar 

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Rezza, E., Iannaccone, G. & Lendvai, D. Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity. Pediatr Radiol 14, 323–327 (1984). https://doi.org/10.1007/BF01601885

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