[Mesomelic dwarfism. Pronounced form in a female infant of a father with dyschondrosteosis and a mother with Madelung's deformity].
A serious form of mesomelic dwarfism was observed in a 4 1/2-month-old girl whose parents (first cousins) presented dyschondrosteosis and Madelung's deformity respectively. The radiological findings in all three subjects are discussed. It is suggested that the three morbid forms are expressions of the some genotypical alteration, probably at the homozygote status of mesomelic dwarfism.
D000328:Adult; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics*; D004480:Ectromelia / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D013577:Syndrome
Il nanismo mesomelico. Forma conclamata in bambina nata da padre con discondrosteosi e da madre con deformità di Madelung.