Rj. Oostra et al., CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM VROLIKIN AMSTERDAM, THE NETHERLANDS - II - SKELETAL DYSPLASIAS, American journal of medical genetics, 77(2), 1998, pp. 116-134
The Museum Vrolik, collection of the Department of Anatomy and Embryol
ogy of the University of Amsterdam, founded by Gerardus Vrolik (1775-1
859) 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 ano
malies was recatalogued and redescribed according to contemporary synd
romological views. The original descriptions, as far as preserved, wer
e compared with the clinical and radiographical findings. In 18 specim
ens the following skeletal dysplasias were diagnosed: achondrogenesis,
achondroplasia, Blomstrand chondrodysplasia, Majewski syndrome, osteo
dysplastic primordial dwarfism, osteogenesis imperfecta type I, osteog
enesis imperfecta type II, and thanatophoric dysplasia with and withou
t cloverleaf skull. Radiography did not yield a diagnosis in 4 specime
ns. The use of additional diagnostical techniques, such as MRI and CT
scanning and fluorescence in situ hybridization in these specimens, is
currently being investigated. (C) 1998 Wiley-Liss, Inc.