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J Med Genet. 1976 August; 13(4): 277–280.
PMCID: PMC1013415

Pfeiffer syndrome: report of a family and review of the literature.


A 5-year-old boy and his father with Pfeiffer syndrome are described. They had acrocephaly, hypertelorism, antimongoloid slant of the palpebral fissures, protrusion of the eyes, large and broad nose, small mandible, irregularly placed teeth, additional upper canine, high-arched palate, partial syndactyly of fingers and toes, brachydactyly of toes, valgus deformity of hypertrophied triangular great toes, broad phalanges of the great toes and broad first metatarsals, accessory epiphyses lateral to the interphalangeal joint of the great toes, and normal intelligence. To our knowledge, this is the first family in which the syndrome is almost totally confined to the head and feet--it spares the upper limbs except for partial skin syndactyly between the fingers--and the third family showing inheritance through three successive generations suggesting an autosomal dominant mode of inheritance. The published papers are reviewed and the clinical and x-ray signs are tabulated.

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Selected References

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  • 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]
  • PFEIFFER RA. DOMINANT ERBLICHE AKROCEPHALOSYNDAKTYLIE. Z Kinderheilkd. 1964 Sep 16;90:301–320. [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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