Betancourt CL, Jiménez TI, Izaguirre BM, Betancourt CD

Language: Spanish
References: 15
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ABSTRACT

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.

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