Recessive lethal chondrodysplasia, round femoral inferior epiphysis type

Recessive lethal chondrodysplasia, round femoral inferior epiphysis type

Four cases of a sublethal form of chondrodysplasia are reported. The micromelic dwarfism is severe and on X-ray pictures the most striking feature is the shape of the lower femoral epiphysis, which is relatively well developed and rounded. The mode of inheritance is presumably autosomal recessive.

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Bibliographische Detailangaben
Veröffentlicht in:European journal of pediatrics 1988-05, Vol.147 (4), p.408-411
Hauptverfasser: MAROTEAUX, P, STANESCU, V, COUSIN, J
Format: Artikel
Sprache:eng
Schlagworte:
Biological and medical sciences
Diseases of the osteoarticular system
Epiphyses - pathology
Female
Femur - pathology
Genes, Recessive
Humans
Infant, Newborn
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Osteochondrodysplasias - congenital
Osteochondrodysplasias - genetics
Osteochondrodysplasias - pathology
Tibia - pathology
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Beschreibung
Zusammenfassung:Four cases of a sublethal form of chondrodysplasia are reported. The micromelic dwarfism is severe and on X-ray pictures the most striking feature is the shape of the lower femoral epiphysis, which is relatively well developed and rounded. The mode of inheritance is presumably autosomal recessive.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF00496421