Article ID Journal Published Year Pages File Type
9236062 Annales d'Endocrinologie 2005 4 Pages PDF
Abstract
Kenny syndrome is rare. Clinical feature include severe dwarfism, growth retardation macrocephaly, episodic hypocalcemia, internal cortical thickening and medullary stenosis of tubular bones. Genetic and phenotypic polymorphisms are characteristic. We report the observation of a Tunisian girl with the arabic variant of Kenny syndrome. She had chronic hypoparathyroidism, classic dwarfism, short stature with hormone deficiency, mental retardation and low helper/suppressor ratio. Our patient had two sisters and one brother with the same dysmorphic face and a marked intra-uterine growth retardation. They died from severe infections. Hypoparathyroidism was established in one sister.
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