Revista Cubana de Pediatría
versión On-line ISSN 1561-3119
ESTRADA SARMIENTO, Manuel et al. Síndrome de Freeman-Sheldon: Revisión bibliográfica. Rev Cubana Pediatr [online]. 2001, vol.73, n.4, pp. 230-235. ISSN 1561-3119.
An updated bibliographic review on the clinical pecularities of craniocarpotarsal dysplasia or Freeman-Sheldon syndrome was made. The characteristic findings of this syndrome were observed at birth, with predominance of musculoskeletal anomalies, whose significant signs were microstomia, hypoplasia of the median third of the face and the H-shaped sulcus in the chin, a pathognomic sign. The diagnosis of this affection is made by using the facial and extremity findings. The radiographic studies of the cranium, the biopsy of the buccinator muscle and the electormiographic cranial studies proved to be very useful. The surgical treatment was indicated to improve the facial look and the function of the hands and feet. The clinical, diagnostic and therapeutic aspects were analyzed in detail.
Palabras llave : FACIAL BONES [anomalies]; BONES OF UPPER EXTREMITY [anomalies]; FOOT DEFORMITIES, CONGENITAL [physiopathology].