CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM VROLIKIN AMSTERDAM, THE NETHERLANDS - II - SKELETAL DYSPLASIAS

Citation
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
Citations number
19
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
77
Issue
2
Year of publication
1998
Pages
116 - 134
Database
ISI
SICI code
0148-7299(1998)77:2<116:CITTCO>2.0.ZU;2-F
Abstract
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.