CONGENITAL-ANOMALIES IN THE TERATOLOGICAL COLLECTION OF MUSEUM VROLIKIN AMSTERDAM, THE NETHERLANDS - I - SYNDROMES WITH MULTIPLE CONGENITAL-ANOMALIES

The Museum Vrolik collection of the Department of Anatomy and Embryolo gy of the University of Amsterdam, founded by Gerardus Vrolik (1775-18 59) and his son Willem Vrolik (1801-1863), consists of more than 5,000 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 13 specim ens the following multiple congenital anomalies (MCA) syndromes were d iagnosed: acrofacial dysostosis, Apert syndrome, Brachmann-De Lange sy ndrome, ichthyosis congenita gravis, Jarcho-Levin syndrome, Meckel syn drome, oro-facio-digital syndrome type IV, Roberts syndrome, Smith-Lem li-Opitz syndrome, Treacher Collins syndrome, and trisomy 13. It appea red that the founders of the museum studied and described several of t hese syndromes many years before they became established as such. In s ome specimens a reliable diagnosis is still pending. The use of additi onal diagnostical techniques, such as MRI, CT scanning, and fluorescen ce in situ hybridization, in these specimens is currently being invest igated. (C) 1998 Wiley-Liss, Inc.