Bone dysplasias of infancy in the Vienna collection.
The Vienna Museum of Pathological Anatomy contains a vast collection of abnormal skeletons. We have appraised this material and attempted to establish firm diagnoses of specific genetic disorders in terms of modern syndromic concepts. A number of the skeletons in the museum are those of deceased neonates; in many instances it was impossible to reach a diagnosis on the basis of the outward appearance but radiographic investigations confirmed diagnoses including osteogenesis imperfecta type II, thanatophoric dysplasia, achondroplasia and achondrogenesis. The Vienna collection represents a priceless resource for the investigation of genetic skeletal disorders of this type.
Beighton
P
P
Department of Human Genetics, University of Cape Town, Medical School, South Africa.
Sujansky
E
E
Patzak
B
B
Portele
K A
KA
D000130:Achondroplasia / Q000473:pathology*; D001317:Austria; D001842:Bone and Bones / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009144:Museums; D010013:Osteogenesis Imperfecta / Q000473:pathology*; D013796:Thanatophoric Dysplasia / Q000473:pathology*