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J Med Genet. 1988 December; 25(12): 857–859.
PMCID: PMC1051619

Achondroplasia in sibs of normal parents.


A new case of recurrent achondroplasia in sibs of normal parents is reported. Two sisters and a half sister were affected. Various mechanisms can be postulated to account for unexpected recurrence of achondroplasia in the same sibship. Germinal mosaicism and unstable premutation are discussed here.

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Selected References

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  • Opitz JM. "Unstable premutation" in achondroplasia: penetrance vs phenotrance. Am J Med Genet. 1984 Oct;19(2):251–254. [PubMed]
  • Fitzsimmons JS. Familial recurrence of achondroplasia. Am J Med Genet. 1985 Nov;22(3):609–613. [PubMed]
  • Bowen P. Achondroplasia in two sisters with normal parents. Birth Defects Orig Artic Ser. 1974;10(12):31–36. [PubMed]
  • Fryns JP, Kleczkowska A, Verresen H, van den Berghe H. Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents. Clin Genet. 1983 Sep;24(3):156–158. [PubMed]
  • Reiser CA, Pauli RM, Hall JG. Achondroplasia: unexpected familial recurrence. Am J Med Genet. 1984 Oct;19(2):245–250. [PubMed]
  • Allanson JE. Germinal mosaicism in Apert syndrome. Clin Genet. 1986 May;29(5):429–433. [PubMed]
  • Hall JG, Dorst JP, Rotta J, McKusick VA. Gonadal mosaicism in pseudoachondroplasia. Am J Med Genet. 1987 Sep;28(1):143–151. [PubMed]
  • Hall JG, Byers PH. Genetics of tuberous sclerosis. Lancet. 1987 Mar 28;1(8535):751–751. [PubMed]

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