A Morphometric Assessment of the Influence of EGCG on Down Syndrome Facial Morphology. J Cintron, M Dierssen, R Gonzalez, J Sharpe, N Martinez-Abadias, J Starbuck.

Date: April 2019. Source: The FASEB Journal, Vol 33, No. 1_supplement. Abstract: Down syndrome (DS) is a genetic birth defect that results from Trisomy 21, which causes an overexpression of human chromosome 21 (HSA21) genes. Overexpressed HSA21 genes disturb development by altering morphogenesis and growth, resulting in cognitive impairment, characteristic facial morphology, and many other…

A predictive model for obstructive sleep apnea and Down syndrome. BG Skotko et al.

Date: January 2017. Source: American Journal of Medical Genetics. Abstract: Obstructive sleep apnea (OSA) occurs frequently in people with Down syndrome (DS) with reported prevalences ranging between 55% and 97%, compared to 1–4% in the neurotypical pediatric population. Sleep studies are often uncomfortable, costly, and poorly tolerated by individuals with DS. The objective of this…

Quantitative Evaluation of the Facial Morphology of a Tolteca Figurine from Mexico using Geometric Morphometric Approaches. JM Starbuck.

Date: June 2014. Source: International Journal of Morphology. Volume 32, Number 2, pp 499–509. Summary: Morphometric approaches can be combined with 2D or 3D imaging to quantitatively evaluate craniofacial medical conditions depicted in material culture and to learn more about the culture being studied. A terra-cotta figurine (circa 500 A.D.) from the Tolteca culture of…

Trisomy 21 and Facial Developmental Instability. JM Starbuck, TM Cole III, RH Reeves, and JT Richtsmeier.

Date: February 2013. Source: American Journal of Physical Anthropology, Volume 151, Issue 1, pp 49-57. Abstract: The most common live-born human aneuploidy is trisomy 21, which causes Down syndrome (DS). Dosage imbalance of genes on chromosome 21 (Hsa21) affects complex gene-regulatory interactions and alters development to produce a wide range of phenotypes, including characteristic facial dysmorphology. Little is known about how…

Morphological Integration of Soft-Tissue Facial Morphology in Down Syndrome and Siblings. J Starbuck, RH Reeves, and J Richtsmeier.

Date: June 2011. Source: American Journal of Physical Anthropology, 146(4): 560–568. Abstract: Down syndrome (DS), resulting from trisomy of chromosome 21, is the most common live-born human aneuploidy. The phenotypic expression of trisomy 21 produces variable, though characteristic, facial morphology. Although certain facial features have been documented quantitatively and qualitatively as characteristic of DS (e.g.,…

On the Antiquity of Trisomy 21: Moving Towards a Quantitative Diagnosis of Down Syndrome in Historic Material Culture. John M. Starbuck

Date: 2011 Source: Journal of Contemporary Anthropology, Vol. II (2011), Iss. 1. Abstract: Down syndrome was first medically described as a separate condition from other forms of cognitive impairment in 1866. Because it took so long for Down syndrome to be recognized as a clinical entity deserving its own status, several investigators have questioned whether…