[Pfeiffer's syndrome].
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.
Baxová
A
A
Veljaciková
J
J
Hnilicová
S
S
Zámecníková
A
A
Skultétyová
M
M
D000168:Acrocephalosyndactylia / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D010375:Pedigree
Pfeifferov syndróm.