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MEDISAN

On-line version ISSN 1029-3019

Abstract

SANTANA HERNANDEZ, Elayne Esther  and  RODRIGUEZ FONT, Elena Gertrudis. Kenny-Caffey Syndrome in several members of a family. MEDISAN [online]. 2017, vol.21, n.3, pp. 324-329. ISSN 1029-3019.

The Kenny-Caffey syndrome is a hereditary, extremely strange disease that is transmitted in an autosomal dominant way and is characterized by growth failure, ocular anomalies, hypocalcemia and cortinal swelling of the long bones whose early diagnosis and intervention will help to improve the life quality of affected patients. Two members of a family are presented (mother and a son), assisted in the clinical genetics service in Holguín, with clinical characteristics that fitted with this syndrome, to share these findings with the medical community in general, because the fact that 3 people of the same family were affected attracted attention, although just 2 of them are described

Keywords : Kenny-Caffey syndrome; genetic disease; hypocalcemia crisis; low height; hypoacusis; ophthalmologic disorder.

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