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. 1982 Aug;19(4):286–288. doi: 10.1136/jmg.19.4.286

An unusual form of familial acrocephalosyndactyly.

I D Young, P S Harper
PMCID: PMC1048895  PMID: 7120317

Abstract

A family is described in which at least six members have an unusual form of acrocephalosyndactyly showing autosomal dominant inheritance. The most characteristic feature in the more severely affected individuals is duplication of the distal phalanx of the hallux. Review of family photographs suggests that the cosmetic outcome in apparently affected infants may be much better than anticipated.

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Selected References

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

  1. Carter C. O., Till K., Fraser V., Coffey R. A family study of craniosynostosis, with probable recognition of a distinct syndrome. J Med Genet. 1982 Aug;19(4):280–285. doi: 10.1136/jmg.19.4.280. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Cohen M. M., Jr Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating. Birth Defects Orig Artic Ser. 1979;15(5B):13–63. [PubMed] [Google Scholar]
  3. Escobar V., Bixler D. On the classification of the acrocephalosyndactyly syndromes. Clin Genet. 1977 Sep;12(3):169–178. doi: 10.1111/j.1399-0004.1977.tb00920.x. [DOI] [PubMed] [Google Scholar]
  4. Martsolf J. T., Cracco J. B., Carpenter G. G., O'Hara A. E. Pfeiffer syndrome. An unusual type of acrocephalosyndactyly with broad thumbs and great toes. Am J Dis Child. 1971 Mar;121(3):257–262. [PubMed] [Google Scholar]
  5. Robinow M., Sorauf T. J. Acrocephalopolysyndactyly, type Noack, in a large kindred. Birth Defects Orig Artic Ser. 1975;11(5):99–106. [PubMed] [Google Scholar]
  6. Saldino R. M., Steinbach H. L., Epstein C. J. Familial acrocephalosyndactyly (Pfeiffer syndrome). Am J Roentgenol Radium Ther Nucl Med. 1972 Nov;116(3):609–622. doi: 10.2214/ajr.116.3.609. [DOI] [PubMed] [Google Scholar]
  7. Sanchex H. M., De Negrotti T. C. Variable expression in Pfeiffer syndrome. J Med Genet. 1981 Feb;18(1):73–75. doi: 10.1136/jmg.18.1.73. [DOI] [PMC free article] [PubMed] [Google Scholar]

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