Resumo

SANTANA HERNANDEZ, Elayne Esther; SERRANO RUEDA, Arianna  e  PUPO ROJAS, Lianet. Congenital deformity in fingers and toes associated with camptodactyly. Presentation of an affected family. Medicentro Electrónica [online]. 2023, vol.27, n.4  Epub 01-Dez-2023. ISSN 1029-3043.

Finger deformities are frequent alterations and are sometimes associated with camptodactyly. These can be congenital or acquired, and may be associated with teratogens during prenatal stage or determined by an inherited gene that causes this defect, as well as appear in isolation or in several members of the same family, segregating with an autosomal dominant inheritance pattern. We present a family with three affected members from a mother with a defect in fingers and toes, who has two descendants with the same deformities, without other alterations. It is considered a congenital defect with aesthetic implications, and repercussions, to some extent, on the mobility of all fingers. Multidisciplinary follow-up is necessary, together with orthopedics, psychologists, and clinical geneticists, to provide adequate genetic counseling to the family, inform possible surgical treatment, and timely rehabilitation to improve the quality of life of those affected subjects.

Palavras-chave : limb deformities; congenital.

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