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J Med Genet. 1980 August; 17(4): 250–256.
PMCID: PMC1048564

Pitfalls of genetic counselling in Pfeiffer's syndrome.


A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the full acrocephalosyndactyly syndrome.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Robinow M, Sorauf TJ. Acrocephalopolysyndactyly, type Noack, in a large kindred. Birth Defects Orig Artic Ser. 1975;11(5):99–106. [PubMed]
  • Jackson CE, Weiss L, Reynolds WA, Forman TF, Peterson JA. Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred. J Pediatr. 1976 Jun;88(6):963–968. [PubMed]
  • Escobar V, Bixler D. The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis. Clin Genet. 1977 Apr;11(4):295–235. [PubMed]
  • Martsolf JT, Cracco JB, Carpenter GG, O'Hara AE. Pfeiffer syndrome. An unusual type of acrocephalosyndactyly with broad thumbs and great toes. Am J Dis Child. 1971 Mar;121(3):257–262. [PubMed]
  • Saldino RM, Steinbach HL, Epstein CJ. Familial acrocephalosyndactyly (Pfeiffer syndrome). Am J Roentgenol Radium Ther Nucl Med. 1972 Nov;116(3):609–622. [PubMed]

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