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Revista Cubana de Pediatría
versão On-line ISSN 1561-3119
Resumo
BETANCOURT CASTELLANOS, Liset; JIMENEZ TORRES, Idarmis; IZAGUIRRE BORDELOIS, Marioneya e BETANCOURT CASTELLANOS, Denny. Freeman-Sheldon syndrome. Rev Cubana Pediatr [online]. 2022, vol.94, n.2 Epub 01-Jun-2022. ISSN 1561-3119.
Introduction:
Freeman-Sheldon syndrome is a rare hereditary syndrome of varying severity that mainly affects the face, hands and feet, without gender, ethnic or geographical preference.
Objective:
Clinically characterize a patient with Freeman-Sheldon syndrome.
Presentation of the case:
Ecuadorian girl, 6 years old, daughter of mother of 43 years and father of 42 years, the fourth of 6 brothers, all healthy, not history of consanguinity. She presents mask-like face, sunken eyes, wide nasal bridge, small mouth with the appearance of a whistler, skin dimple on the chin in the shape of an H, defect in the hands, contracture of the fingers with ulnar deviation and clubfoot, also walking difficulty and short height.
Conclusions:
Freeman-Sheldon syndrome is a rare syndrome that mainly affects the face and limbs of patients, whose clinical diagnosis is possible after a thorough physical examination.
Palavras-chave : Freeman-Sheldon syndrome; Freeman-Burian syndrome; craniocarpotarsal dysplasia; craniocarpotarsal dystrophy; craniofacial syndrome; distal arthrogryposis type 2A; whistling face syndrome.