Autosomal recessive omodysplasia.
The authors report on a new case of omodysplasia with severe shortness of lower limbs and with first cousin parents. This condition is a second form of omodysplasia. Recessive transmission is confirmed by consanguinity.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics*; D019066:Facies; D005260:Female; D005269:Femur / Q000002:abnormalities*; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D006801:Humans; D006811:Humerus / Q000002:abnormalities*; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree