Abstract
A probably new syndrome of osteopathic dwarfism was discovered in three siblings - a boy and his two sisters born of a first cousin marriage. At birth, the appearance was normal except for a significant micrognathia. At the end of the first year, a high fever of unknown etiology lasted over many months before the onset of swelling and pain of the big joints. There was no lymphadenopathy, no splenomegaly, no biological signs of rheumatoid arthritis. The prolonged corticosteroid therapy failed to prevent ankylosis of the big joints and of the interphalangeal joints. Mesomelic dwarfism became obvious at the end of the third year. On X-ray, the epiphyses were fragmented, the metaphyses were mostly irregular and flared, the diaphyses were thin and curved at places. The carpal bones were fragmented. The spine was normal and the facial bones were dysplastic. All the biological values were normal, especially the urinary mucopolysaccharides, aminoacids, the thyroid and parathyroid function tests. The I.Q. and the pubertal development were also within normal limits.A biopsy revealed dystrophic endochondral ossification.
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Naffah, J., Akatcherian, C. & Der Kaloustian, V. A new syndrome of osteopathic dwarfism: 91. Pediatr Res 14, 179 (1980). https://doi.org/10.1203/00006450-198002000-00118
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DOI: https://doi.org/10.1203/00006450-198002000-00118
