Lipinski, RJ;
Hammond, P;
O'Leary-Moore, SK;
Ament, JJ;
Pecevich, SJ;
Jiang, Y;
Budin, F;
... Sulik, KK; + view all
(2012)
Ethanol-Induced Face-Brain Dysmorphology Patterns Are Correlative and Exposure-Stage Dependent.
PLOS ONE
, 7
(8)
, Article e43067. 10.1371/journal.pone.0043067.
![[thumbnail of 1376704.pdf]](https://discovery.ucl.ac.uk/style/images/fileicons/application_pdf.png) Preview |
PDF
1376704.pdf Download (3MB) |
Abstract
Prenatal ethanol exposure is the leading preventable cause of congenital mental disability. Whereas a diagnosis of fetal alcohol syndrome (FAS) requires identification of a specific pattern of craniofacial dysmorphology, most individuals with behavioral and neurological sequelae of heavy prenatal ethanol exposure do not exhibit these defining facial characteristics. Here, a novel integration of MRI and dense surface modeling-based shape analysis was applied to characterize concurrent face-brain phenotypes in C57Bl/6J fetuses exposed to ethanol on gestational day (GD)7 or GD8.5. The facial phenotype resulting from ethanol exposure depended upon stage of insult and was predictive of unique patterns of corresponding brain abnormalities. Ethanol exposure on GD7 produced a constellation of dysmorphic facial features characteristic of human FAS, including severe midfacial hypoplasia, shortening of the palpebral fissures, an elongated upper lip, and deficient philtrum. In contrast, ethanol exposure on GD8.5 caused mild midfacial hypoplasia and palpebral fissure shortening, a shortened upper lip, and a preserved philtrum. These distinct, stage-specific facial phenotypes were associated with unique volumetric and shape abnormalities of the septal region, pituitary, and olfactory bulbs. By demonstrating that early prenatal ethanol exposure can cause more than one temporally-specific pattern of defects, these findings illustrate the need for an expansion of current diagnostic criteria to better capture the full range of facial and brain dysmorphology in fetal alcohol spectrum disorders.
| Type: | Article |
|---|---|
| Title: | Ethanol-Induced Face-Brain Dysmorphology Patterns Are Correlative and Exposure-Stage Dependent |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1371/journal.pone.0043067 |
| Publisher version: | http://dx.doi.org/10.1371/journal.pone.0043067 |
| Language: | English |
| Additional information: | © Lipinski et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. This work was supported by National Institutes of Health grants AA011605, AA017124, AA007573, DE-16215-05, U24 CA092656, U24 RR021760, T90DE021986-01, P41 EB015897, and P30 HD003110. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. |
| UCL classification: | UCL |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1376704 |
Archive Staff Only
 |
View Item |
