title: [Pfeiffer's syndrome].
abstract: The authors examined a 2-month-old infant with clinical signs of Pfeiffer's syndrome (craniosynostosis, abnormalities of the extremities, normal psychomotor development). In the family other affected cases were revealed with a variable expressivity of the clinical signs. The authors draw attention to the importance of a detailed clinical, X-ray and anthropometric examination of different members of the family to detect carriership of the gene for ACS.
authors.forename: A
authors.initials: A
authors.lastname: Baxová
authors.forename: J
authors.initials: J
authors.lastname: Veljaciková
authors.forename: S
authors.initials: S
authors.lastname: Hnilicová
authors.forename: A
authors.initials: A
authors.lastname: Zámecníková
authors.forename: M
authors.initials: M
authors.lastname: Skultétyová
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D010375:Pedigree
vernacular_title: Pfeifferov syndróm.