[Freeman-sheldon's syndrome (cranio-carpo-tarsal dysplasia) (author's transl)].
A case with typical features of Freeman-Sheldon's syndrome is reported. The proband, a five years old girl had not any other affected members in her family, and showed every other associated malformations previously described: soft tissue swelling of supraorbital area, deep set eyes, epicantus, convergent strabismus, small nose, long philtrum area, H-Defect of chin, craneal alterations, kyphoscoliosis, finger contractures, thickening of the skin over the dorsum of the fingers, talipes equinovarus, etc. A cylindrical morphology of the three last metacarpals of both hands is remarkable.
D000015:Abnormalities, Multiple; D001763:Blepharoptosis / Q000150:complications; D002675:Child, Preschool; D003394:Craniofacial Dysostosis; D005260:Female; D006801:Humans; D013285:Strabismus / Q000150:complications; D013577:Syndrome
Síndrome de Freeman-Sheldon (displasia cráneo-carpo-tarsal)