title: Apert syndrome with partial preaxial polydactyly.
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.
authors.affiliation: Laboratoire de Cytogénétique, C.H.R.U., Montpellier, France.
authors.forename: G
authors.initials: G
authors.lastname: Lefort
authors.forename: P
authors.initials: P
authors.lastname: Sarda
authors.forename: C
authors.initials: C
authors.lastname: Humeau
authors.forename: D
authors.initials: D
authors.lastname: Rieu
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000517:prevention & control; D003398:Craniosynostoses / Q000235:genetics / Q000517:prevention & control; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics / Q000517:prevention & control; D010641:Phenotype