A genetic study of pycnodysostosis.
A study of seven cases of pycnodysostosis belonging to four different families confirmed the autosomal recessive transmission of the disease. In two sibships which included respectively four and six sibs, two sisters were affected. Furthermore, consanguinity of the parents was observed in three of the four families.
D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010022:Osteopetrosis / Q000235:genetics*; D010375:Pedigree; D011174:Portugal