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 […]

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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 […]

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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 […]

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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., […]

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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 […]

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