Genet Couns. 1992;3(2):107-9.

Apert syndrome with partial preaxial polydactyly.

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Laboratoire de Cytogénétique, C.H.R.U., Montpellier, France.

Abstract

Acrocephalosyndactyly type I or Apert syndrome is characterized by craniosynostosis, particular dysmorphic features and abnormalities of the hands and feet. Rarely, polydactyly of the toes has been reported, and in this event the diagnosis of Carpenter syndrome must be discussed. A case of atypical Acrocephalosyndactyly type I syndrome with partial preaxial polydactyly is reported. Despite this preaxial polydactyly a diagnosis of Apert syndrome consecutive to a new mutation was made, and the possibility of recurrence considered to be highly improbable.

PMID:: 1642807; [PubMed - indexed for MEDLINE]

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Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. [Genet Couns. 2005]
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Review [Syndrome of craniosynostosis with syn- or polydactylia].
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Review Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes. [Am J Med Genet. 1987]
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Cohen DM, Green JG, Miller J, Gorlin RJ, Reed JA. Am J Med Genet. 1987 Oct; 28(2):311-24.

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Apert syndrome with partial preaxial polydactyly.

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