[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.
Acrocephalosyndactylia↗