Human anotocephaly (aprosopus, acrania-synotia) in the Vilnius anatomical collection.
A genetic theory of "multifactorial" malformations, i.e., anomalies of blastogenesis or organogenesis, involving polygenic predisposition with morphogenetic threshold effect, was developed by Sewall Wright in the 1920s and remains an essential basis of birth defects biology. Because of the phenomenon of universality, i.e., the deployment of identical inductive, or pattern-forming, upstream molecular mechanisms during the earliest stages of mammalian morphogenesis, Wright's work on guinea pig otocephaly is highly pertinent to "corresponding," i.e., homologous malformations in humans. This concept is illustrated on the hand of a human fetus in the Vilnius (Lithuania) Pathological Museum with anotocephaly, i.e., anencephaly and otocephaly so severe as to correspond to Wright's guinea pig otocephaly grade 11 or 12. The observation also supports our apology for old museums and old books as repositories for anomalies, no less important for their rarity.
Utkus
A
A
Human Genetics Center, Vilnius University, Vilnius, Lithuania.
Kazakevicius
R
R
Ptasekas
R
R
Kucinskas
V
V
Beckwith
J B
JB
Opitz
J M
JM
D000757:Anencephaly / Q000266:history* / Q000473:pathology; D000818:Animals; D019465:Craniofacial Abnormalities / Q000266:history*; D005315:Fetal Diseases / Q000266:history / Q000473:pathology; D005333:Fetus / Q000002:abnormalities*; D049669:History, 16th Century; D049670:History, 17th Century; D049671:History, 18th Century; D049672:History, 19th Century; D049673:History, 20th Century; D006801:Humans; D008097:Lithuania; D009144:Museums / Q000266:history; D010336:Pathology / Q000266:history*