Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany.
The Anatomical Collections of the Department of Anatomy and Cell Biology at the University of Halle, Germany, comprise more than 8,000 specimens, about 600 of them congenital anomalies. The collection of abnormal human and animal specimens began with the private collections of Johann Friedrich Meckel the Elder (1724-1774), his son Philipp Friedrich Theodor Meckel (1755-1803), and his grandson Johann Friedrich Meckel the Younger (1781-1833). Meckel the Younger founded the science of developmental pathology in Germany. Radiographical techniques, computer tomographic methods (CT), magnetic resonance imaging (MRI), and molecular cytogenetic techniques, for example, comparative genomic hybridization (CGH) were used to diagnose abnormal human fetuses in the Meckel Collection. On examination of one of the human fetuses, originally described by JF Meckel the Younger in 1812 or earlier, we found striking clinical manifestations including mandibulofacial defects and preaxially malformed limbs. With respect to external findings, we propose that the condition is acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) in combination with club foot, tibial torsion, and single umbilical artery. We used genetic analyses to test whether the observed limb malformations could be caused by aneuploidy. CGH-ratio profiles of all chromosomes were apparently normal. It is likely that Meckel's specimen is the earliest known fetus with Nager AFD.
Göbbel
Luminita
L
Department of Anatomy and Cell Biology, Martin-Luther University Halle-Wittenberg, Halle/Saale, Germany. luminita.goebbel@medizin.uni-halle.de
Schultka
Rüdiger
R
Klunker
Rudyard
R
Stock
Karsten
K
Wand
Dorothee
D
Olsson
Lennart
L
Gerlach
Antje
A
Tönnies
Holger
H
D000015:Abnormalities, Multiple / Q000235:genetics / Q000266:history / Q000473:pathology*; D003025:Clubfoot / Q000473:pathology*; D005333:Fetus / Q000002:abnormalities*; D015894:Genome, Human; D005858:Germany; D049672:History, 19th Century; D006801:Humans; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008342:Mandibulofacial Dysostosis / Q000473:pathology*; D009693:Nucleic Acid Hybridization / Q000379:methods; D013577:Syndrome; D036542:Tomography, Spiral Computed; D014495:Universities