The Vienna Museum of Pathological Anatomy contains a vast collection o
f abnormal skeletons. We have appraised this material and attempted to
establish firm diagnoses of specific genetic disorders in terms of mo
dern syndromic concepts. A number of the skeletons in the museum are t
hose of deceased neonates; in many instances it was impossible to reac
h a diagnosis on the basis of the outward appearance but radiographic
investigations confirmed diagnoses including osteogenesis imperfecta t
ype II, thanatophoric dysplasia, achondroplasia and achondrogenesis. T
he Vienna collection represents a priceless resource for the investiga
tion of genetic skeletal disorders of this type.