[A rare lethal bone dysplasia with recessive autosomic transmission].
D000015:Abnormalities, Multiple; D000310:Adrenal Gland Neoplasms / Q000473:pathology; D000328:Adult; D001344:Autopsy; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005121:Extremities / Q000000981:diagnostic imaging; D005260:Female; D005360:Fibula / Q000002:abnormalities; D006529:Hepatomegaly; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010190:Pancreatic Neoplasms / Q000473:pathology; D010282:Parathyroid Neoplasms / Q000473:pathology; D010375:Pedigree; D011859:Radiography; D011884:Radius / Q000002:abnormalities; D013577:Syndrome; D013950:Thymus Gland / Q000000981:diagnostic imaging / Q000473:pathology
Une rare dysplasie osseuse léhale de transmission récessive autosomique.