Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis.
Both parents of a female infant with mesomelic dysplasia, type Langer, showed signs of dyschondrosteosis. This further observation suggests that this type of mesomelic dysplasia may be due to homozygosity for the autosomal dominant gene of dyschondrosteosis.
D002675:Child, Preschool; D005260:Female; D006720:Homozygote; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D013577:Syndrome