Orofacial clefts embryology, classification, epidemiology, and genetics

G Nasreddine, J El Hajj… - … Research/Reviews in …, 2021 - Elsevier
Orofacial clefts (OFCs) rank as the second most common congenital birth defect in the
United States after Down syndrome and are the most common head and neck congenital …

Facial genetics: a brief overview

S Richmond, LJ Howe, S Lewis, E Stergiakouli… - Frontiers in …, 2018 - frontiersin.org
Historically, craniofacial genetic research has understandably focused on identifying the
causes of craniofacial anomalies and it has only been within the last 10 years, that there has …

Multimodal spatiotemporal transcriptomic resolution of embryonic palate osteogenesis

JO Piña, R Raju, DM Roth, EW Winchester… - Nature …, 2023 - nature.com
The terminal differentiation of osteoblasts and subsequent formation of bone marks an
important phase in palate development that leads to the separation of the oral and nasal …

Decoding the human face: progress and challenges in understanding the genetics of craniofacial morphology

S Naqvi, H Hoskens, F Wilke… - Annual review of …, 2022 - annualreviews.org
Variations in the form of the human face, which plays a role in our individual identities and
societal interactions, have fascinated scientists and artists alike. Here, we review our current …

Revisiting the embryogenesis of lip and palate development

NL Hammond, MJ Dixon - Oral Diseases, 2022 - Wiley Online Library
Clefts of the lip and palate (CLP), the major causes of congenital facial malformation
globally, result from failure of fusion of the facial processes during embryogenesis. With a …

High-resolution epigenomic atlas of human embryonic craniofacial development

A Wilderman, J VanOudenhove, J Kron, JP Noonan… - Cell reports, 2018 - cell.com
Defects in patterning during human embryonic development frequently result in craniofacial
abnormalities. The gene regulatory programs that build the craniofacial complex are likely …

Genetics and signaling mechanisms of orofacial clefts

K Reynolds, S Zhang, B Sun, MA Garland… - Birth defects …, 2020 - Wiley Online Library
Craniofacial development involves several complex tissue movements including several
fusion processes to form the frontonasal and maxillary structures, including the upper lip and …

Assessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate

K Saleem, T Zaib, W Sun, S Fu - Heliyon, 2019 - cell.com
Non syndromic orofacial clefts specifically non-syndromic cleft lip/palate are one of the most
common craniofacial malformation among birth defects in human having multifactorial …

Genome-wide enrichment of de novo coding mutations in orofacial cleft trios

MR Bishop, KKD Perez, M Sun, S Ho, P Chopra… - The American Journal of …, 2020 - cell.com
Although de novo mutations (DNMs) are known to increase an individual's risk of congenital
defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the …

Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes

M Basha, B Demeer, N Revencu, R Helaers… - Journal of medical …, 2018 - jmg.bmj.com
Background Oral clefts, that is, clefts of the lip and/or cleft palate (CL/P), are the most
common craniofacial birth defects with an approximate incidence of~ 1/700. To date …