Phenotypes, developmental basis, and genetics of Pierre Robin complex

December 05, 2020

Susan M. Motch Perrine (1), Meng Wu (2), Greg Holmes (2), Bryan C. Bjork (3), Ethylin Wang Jabs (2), Joan T. Richtsmeier (1)
Journal of Developmental Biology, 8, December 2020: 30. DOI: 10.3390/jdb8040030


mandible, nasopharynx, tongue, cleft palate, stickler, Treacher Collins, velocardiofacial syndrome, micrognathia


The phenotype currently accepted as Pierre Robin syndrome/sequence/anomalad/complex (PR) is characterized by mandibular dysmorphology, glossoptosis, respiratory obstruction, and in some cases, cleft palate. A causative sequence of developmental events is hypothesized for PR, but few clear causal relationships between discovered genetic variants, dysregulated gene expression, precise cellular processes, pathogenesis, and PR-associated anomalies are documented. This review presents the current understanding of PR phenotypes, the proposed pathogenetic processes underlying them, select genes associated with PR, and available animal models that could be used to better understand the genetic basis and phenotypic variation of PR.

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Author Affiliation

(1) Department of Anthropology, The Pennsylvania State University, University Park, PA 16802, USA.
(2) Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
(3) Department of Biochemistry and Molecular Genetics, Chicago College of Osteopathic Medicine, Midwestern University, Downers Grove, IL 60515, USA.