Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias

✍ Scribed by Oostra, Roelof-Jan; Baljet, Bob; Dijkstra, Piet F.; Hennekam, Raoul C.M.

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 174 KB
• Volume: 77
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19980501)77:2<116::aid-ajmg4>3.0.co;2-q

✦ Synopsis

The Museum Vrolik collection of the Department of Anatomy and Embryology of the University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than five thousand specimens of human and animal anatomy, embryology, pathology, and congenital anomalies. Recently, the collection of congenital anomalies was recatalogued and redescribed according to contempory syndromological views. The original descriptions, as far as preserved, were compared with the clinical and radiographical findings. In 18 specimens the following skeletal dysplasias were diagnosed: achondrogenesis, achondroplasia, Blomstrand chondrodysplasia, Majewski syndrome, osteodysplastic primordial dwarfism, osteogenesis imperfecta type I, osteogenesis imperfecta type II, and thanatophoric dysplasia with and without cloverleaf skull. Radiography did not yield a diagnosis in 4 specimens. The use of additional diagnostical techniques, such as MRI and CT scanning and fluorescence in situ hybridization in these specimens, is currently being investigated.