2019/11/17 by Román Vilas, Francisco C. Ceballos, Laila Al‐Soufi +11 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · Dentistry · #Cleft Lip and Palate Research #Genomic variations and chromosomal abnormalities #dental development and anomalies #Inbreeding #Runs of Homozygosity #Consanguinity #Multivariate analysis #Biology #Pedigree chart #Genetics #Prognathism #Medicine #Demography #Single-nucleotide polymorphism #Dentistry #Internal medicine #Gene #Genotype #Population
paper · doi:10.1080/03014460.2019.1687752
openalex publication_date 2019/11/17 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/29
Background: The “Habsburg jaw” has long been associated with inbreeding due to the high prevalence of consanguineous marriages in the Habsburg dynasty. However, it is thought that mandibular prognathism (MP) is under the influence of a dominant major gene.Aim: To investigate the relationship between the “Habsburg jaw” and the pedigree-based inbreeding coefficient (F) as a relative measure of genome homozygosity.Subjects and methods: The degree of MP and maxillary deficiency (MD) of 15 members of the Habsburg dynasty was quantified through the clinical analysis of 18 dysmorphic features diagnosed from 66 portraits.Results: A statistically significant correlation (r = 0.711, p = 0.003) between MP and MD was observed among individuals. Only MP showed a statistically significant positive regression on F as evidenced from univariate analysis (b = 6.36 ± 3.34, p = 0.040) and multivariate analysis (PCA) performed from single dysmorphic features (b = 14.10 ± 6.62, p = 0.027, for the first PC).Conclusion: Both MP and MD are generally involved in the “Habsburg jaw.” The results showed a greater sensitivity to inbreeding for the lower third of the face and suggest a positive association between the “Habsburg jaw” and homozygosity and therefore a basically recessive inheritance pattern.