Advertisement

European Journal of Pediatrics

, Volume 123, Issue 1, pp 29–38 | Cite as

A severe infantile micromelic chondrodysplasia which resembles kniest disease

  • Leonard O. LangerJr.
  • Mario Gonzalez-Ramos
  • Harold Chen
  • Ceres E. Espiritu
  • N. Warn Courtney
  • John M. Opitz
Original Investigations

Abstract

This paper describes 3 infants with a severe, generalized chondrodysplasia with short limbs, shortness of stature, relative micrognathia and neonatal respiratory distress in all cases, cleft palate in two and dislocation of lenses in one. They diet at 7 and 10 weeks and at 17 months respectively. No autopsy was performed on any of the 3 patients. Roentgenological manifestations include short, broad tubular bones with metaphyseal widening, bowing of leg, thigh and forearm bones, neonatal accelerated carpal bone maturation, short, broad pelvis with wide, flared iliac wings, many gross vertebral abnormalities including most prominently coronal clefts of almost any vertebral body, and short ribs with flared anterior ends. Roentgenographically the condition has some similarities with Kniest disease, or more correctly, the Kniest chondrodysplasia. However, we think that the clinical and roentgenological manifestations are sufficiently unique to permit delineation of the condition of our 3 patients as a “new” entity different from the Kniest chondrodysplasia. Similar cases have been described by Rolland et al. from France and by Dinno et al. from the U.S.A. The latter case and our 3 patients were sporadic cases, but the former had a probably affected sibling, suggesting that this disorder is an autosomal recessive trait.

Key words

Generalized chondrodysplasia Short-limb dwarfism Spondyloepimetaphyseal dysplasia Micrognathia Respiratory distress Dislocation of lenses Cleft palate Neonatal/early infancy-childhood death 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Desbuquois, G.: Personal communication (1975)Google Scholar
  2. Dinno, N. D., Shearer, L., Weisskopf, B.: Chondrodystrophic dwarfism, cleft palate, and retrognathia in a neonate, a new syndrome? Europ. J. Pediat. 123, 39–42 (1976)Google Scholar
  3. Lachman, R. S., Rimoin, D. L., Hollister, D. W., Dorst, J. P., Siggers, D. C., McAlister, W., Kaufman, R. L., Langer, L. O.: The Kniest syndrome. Amer. J. Roentgenol. 123, 805 (1975)Google Scholar
  4. Maroteaux, P., Spranger, J.: La maladie de Kniest. Arch. franç. Pédiat. 30, 735 (1973)Google Scholar
  5. Poznanski, A. K.: Personal communication (1975)Google Scholar
  6. Rimoin, D. L.: Histopathology and ultrastructure of cartilage in chondrodystrophies. Birth Defects: Original Article Series X/9, 1 (1974)Google Scholar
  7. Rolland, J.-C., Laugier, J., Grenier, B., Desbuquois, G.: Nanisme chondrodystrophique et division palatine chez un nouveau-né. Ann. Pédiat. 19, 139 (1972)Google Scholar
  8. Siggers, D. C., Rimoin, D. L., Dorst, J. P., Doty, S. B., Williams, B. R., Hollister, D. W., Silberberg, R., Cranley, R. E., Kaufman, R. L., McKusick, V. A.: The Kniest syndrome. Birth Defects: Original Article Series X/9, 193 (1974)Google Scholar
  9. Spranger, J. W., Langer, L. O., Wiedemann, H.-R.: Bone dysplasias. An atlas of constitutional disorders of skeletal development, pp. 359–360. Philadelphia-Toronto: Saunders Co.; Stuttgart; Fischer 1974Google Scholar
  10. Spranger, J. W., Maroteaux, P.: Kniest disease. Birth Defects: Original Article Series X/12, 50 (1974)Google Scholar

Copyright information

© Springer-Verlag 1976

Authors and Affiliations

  • Leonard O. LangerJr.
    • 1
  • Mario Gonzalez-Ramos
    • 2
  • Harold Chen
    • 3
  • Ceres E. Espiritu
    • 4
  • N. Warn Courtney
    • 5
  • John M. Opitz
    • 6
  1. 1.Minneapolis
  2. 2.Genetics UnitHospital Infantil de MéxicoMéxicoMéxico
  3. 3.Growth and Development ClinicChildren's Hospital of MichiganDetroitUSA
  4. 4.Port Arthur
  5. 5.Kalamazoo
  6. 6.Wisconsin Clinical Genetics Center, Department of Medical Genetics, and Department of PediatricsUniversity of Wisconsin Center for Health Sciences and Medical SchoolMadisonUSA

Personalised recommendations