Pyle's disease (familial metaphyseal dysplasia). A presentation of two cases and argument for its separation from craniometaphyseal dysplasia.
D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002968:Clavicle / Q000002:abnormalities; D003638:Deafness; D003937:Diagnosis, Differential; D005269:Femur / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008297:Male; D008663:Metacarpus / Q000002:abnormalities; D009666:Nose / Q000002:abnormalities; D010024:Osteoporosis; D010375:Pedigree; D011859:Radiography; D012272:Ribs / Q000002:abnormalities; D012598:Sclerosis; D012886:Skull / Q000002:abnormalities; D014786:Vision Disorders