1.
Cesk Pediatr
; 44(12): 721-4, 1989 Dec.
Artigo
em Eslovaco
| MEDLINE
| ID: mdl-2636558
RESUMO
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.