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.
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Authors | F Majewski, W Rosendahl, M Ranke, K Nolte |
Journal | European journal of pediatrics
(Eur J Pediatr)
Vol. 136
Issue 1
Pg. 21-30
(Mar 1981)
ISSN: 0340-6199 [Print] Germany |
PMID | 7215388
(Publication Type: Case Reports, Journal Article)
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Topics |
- Adolescent
- Adult
- Anemia
(complications, genetics)
- Child
- Dwarfism
(complications, diagnostic imaging, genetics)
- Female
- Humans
- Hyperopia
(complications, genetics)
- Hypoparathyroidism
(complications, genetics)
- Male
- Microphthalmos
(complications, genetics)
- Myopia
(complications, genetics)
- Pedigree
- Radiography
- Refractive Errors
(complications, genetics)
- Syndrome
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