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PubMed · 6596697

[Kniest's disease].

L Lomboni·Y Baccichetti·R Mokdad·M Dandine·R Tassy·E Eliachar·G Molhant
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Abstract

A one year old child with Kniest's disease was admitted for reconstructive surgery of the bone deficit of a palatine cleft. This syndrome is recognizable at a very early age by the shortness of the limbs or the increase in size of the joints. Clinically it associates mild facial dystrophy and nanism from reduction in height of the trunk and the shortness and deviations of the limbs. Frequently associated are myopia, deafness and a palatine cleft. Radiological signs are reduced height of vertebral bodies, and a not infrequent finding is a cuneiform deformity of the first lumbar vertebrae. Epiphyseal development is anarchic, that of the knee large, while the femoral head is small, fragmented or absent. Transmission is by the dominant mode. Kniest's syndrome must be differentiated from metratropic dwarfism in which there is greater progression of spinal deformities.

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Abnormalities, MultipleBone Diseases, DevelopmentalHumansInfantMaleRadiographySyndromeCase ReportsJournal Article

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BibTeXRIS

L Lomboni, Y Baccichetti, R Mokdad, M Dandine, R Tassy, E Eliachar, G Molhant. 1984. [Kniest's disease].. https://pubmed.ncbi.nlm.nih.gov/6596697/

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