title: The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction.
abstract: One family (3 cases) with the Kenny syndrome and a second family (3 cases) with features of Kenny syndrome but lacking medullary stenosis are reported. The main symptoms in both families are proportionate dwarfism, cortical thickening of tubular bones, variable anomalies of the calvaria, anemia, transient hypoparathyroidism and variable ocular anomalies. The latter include microphthalmia, and moderate-to-severe myopia or hyperopia. In the first family there was medullary stenosis of most tubular bones. In the second family two cases exhibited mild-to-moderate cortical thickening of tubular bones, but absent or mild medullary stenosis. Possible variability of the Kenny syndrome is discussed. Endocrine studies failed to demonstrate any permanent disturbance of parathormone or calcitonin metabolism, or GH deficiency. Pathogenesis remains unclear. Autosomal dominant inheritance seems to be likely.
mesh_terms: D000293:Adolescent; D000328:Adult; D000740:Anemia / Q000150:complications / Q000235:genetics; D002648:Child; D004392:Dwarfism / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D006956:Hyperopia / Q000150:complications / Q000235:genetics; D007011:Hypoparathyroidism / Q000150:complications / Q000235:genetics*; D008297:Male; D008850:Microphthalmos / Q000150:complications / Q000235:genetics; D009216:Myopia / Q000150:complications / Q000235:genetics; D010375:Pedigree; D011859:Radiography; D012030:Refractive Errors / Q000150:complications / Q000235:genetics*; D013577:Syndrome