Human anotocephaly (aprosopus, acrania-synotia) in the Vilnius anatomical collection

Citation
A. Utkus et al., Human anotocephaly (aprosopus, acrania-synotia) in the Vilnius anatomical collection, AM J MED G, 101(2), 2001, pp. 163-171
Citations number
31
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
101
Issue
2
Year of publication
2001
Pages
163 - 171
Database
ISI
SICI code
0148-7299(20010615)101:2<163:HA(AIT>2.0.ZU;2-S
Abstract
A genetic theory of "multifactorial" malformations, i.e., anomalies of blas togenesis or organogenesis, involving polygenic predisposition with morphog enetic threshold effect, was developed by Sewall Wright in the 1920s and re mains an essential basis of birth defects biology. Because of the phenomeno n of universality, i.e., the deployment of identical inductive, or pattern- forming, upstream molecular mechanisms during the earliest stages of mammal ian morphogenesis, Wright's work on guinea pig otocephaly is highly pertine nt to "corresponding," i.e., homologous malformations in humans. This conce pt is illustrated on the hand of a human fetus in the Vilnius (Lithuania) P athological Museum with anotocephaly, i.e., anencephaly and otocephaly so s evere as to correspond to Wright's guinea pig otocephaly grade 11 or 12, Th e observation also supports our apology for old museums and old books as re positories for anomalies, no less important for their rarity, (C) 2001 Wile y-Liss, Inc.