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Arch Dis Child. 1978 November; 53(11): 868–872.
PMCID: PMC1545272



Clinical, radiological, and genetic features are described in 3 patients with hypochondroplasia. Early recognition of this disorder is possible from the abnormal body proportions with short limbs and lumbar lordosis without facial stigmata of achondroplasia. Radiological confirmation is possible provided a full skeletal survey is made. Two of our patients had a large head.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Beals RK. Hypochondroplasia. A report of five kindreds. J Bone Joint Surg Am. 1969 Jun;51(4):728–736. [PubMed]
  • McKusick VA, Kelly TE, Dorst JP. Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. J Med Genet. 1973 Mar;10(1):11–16. [PMC free article] [PubMed]
  • MARESH MM. Linear growth of long bones of extremities from infancy through adolescence; continuing studies. AMA Am J Dis Child. 1955 Jun;89(6):725–742. [PubMed]
  • PENROSE LS. Parental age and mutation. Lancet. 1955 Aug 13;269(6885):312–313. [PubMed]
  • Rimoin DL. The chondrodystrophies. Adv Hum Genet. 1975;5:1–118. [PubMed]
  • Walker BA, Murdoch JL, McKusick VA, Langer LO, Beals RK. Hypochondroplasia. Am J Dis Child. 1971 Aug;122(2):95–104. [PubMed]

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