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. 1992 Nov;29(11):831–833. doi: 10.1136/jmg.29.11.831

Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.

I D Young 1, N R Ruggins 1, J M Somers 1, J M Zuccollo 1, N Rutter 1
PMCID: PMC1016183  PMID: 1453438

Abstract

A male infant with lethal short limbed dwarfism is described. His father had spondyloepiphyseal dysplasia congenita and his mother had achondroplasia. It is believed that the infant inherited both of these disorders and that their combined effects resulted in early death owing primarily to severe pulmonary hypoplasia.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Francomano C. A., Pyeritz R. E. Achondroplasia is not caused by mutation in the gene for type II collagen. Am J Med Genet. 1988 Apr;29(4):955–961. doi: 10.1002/ajmg.1320290433. [DOI] [PubMed] [Google Scholar]
  2. Gardner R. J. A new estimate of the achondroplasia mutation rate. Clin Genet. 1977 Jan;11(1):31–38. doi: 10.1111/j.1399-0004.1977.tb01274.x. [DOI] [PubMed] [Google Scholar]
  3. McKusick V. A., Kelly T. E., Dorst J. P. Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. J Med Genet. 1973 Mar;10(1):11–16. doi: 10.1136/jmg.10.1.11. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Mullis P. E., Patel M. S., Brickell P. M., Hindmarsh P. C., Brook C. G. Growth characteristics and response to growth hormone therapy in patients with hypochondroplasia: genetic linkage of the insulin-like growth factor I gene at chromosome 12q23 to the disease in a subgroup of these patients. Clin Endocrinol (Oxf) 1991 Apr;34(4):265–274. doi: 10.1111/j.1365-2265.1991.tb03765.x. [DOI] [PubMed] [Google Scholar]
  5. Murray L. W., Bautista J., James P. L., Rimoin D. L. Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias. Am J Hum Genet. 1989 Jul;45(1):5–15. [PMC free article] [PubMed] [Google Scholar]
  6. Ogilvie D., Wordsworth P., Thompson E., Sykes B. Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia. J Med Genet. 1986 Feb;23(1):19–22. doi: 10.1136/jmg.23.1.19. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Pauli R. M., Conroy M. M., Langer L. O., Jr, McLone D. G., Naidich T., Franciosi R., Ratner I. M., Copps S. C. Homozygous achondroplasia with survival beyond infancy. Am J Med Genet. 1983 Dec;16(4):459–473. doi: 10.1002/ajmg.1320160404. [DOI] [PubMed] [Google Scholar]
  8. Pauli R. M. Dominance and homozygosity in man. Am J Med Genet. 1983 Dec;16(4):455–458. doi: 10.1002/ajmg.1320160403. [DOI] [PubMed] [Google Scholar]
  9. Sommer A., Young-Wee T., Frye T. Achondroplasia-hypochondroplasia complex. Am J Med Genet. 1987 Apr;26(4):949–957. doi: 10.1002/ajmg.1320260426. [DOI] [PubMed] [Google Scholar]
  10. Wynne-Davies R., Hall C. Two clinical variants of spondylo-epiphysial dysplasia congenita. J Bone Joint Surg Br. 1982;64(4):435–441. doi: 10.1302/0301-620X.64B4.6807992. [DOI] [PubMed] [Google Scholar]

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