The BMP signalling pathway is conserved throughout evolution and essential for mammalian embryonic and postnatal development and growth. In the vertebrate head, this signal is involved in the development of a variety of structures and shows divergent roles. During early head development, BMP signalling participates in the induction, formation, determination and migration of the cranial neural c...

The NIH FACEBASE consortium was established in part to create a central resource for craniofacial researchers. One purpose is to provide a molecular anatomy of craniofacial development. To this end we have used a combination of laser capture microdissection and RNA-Seq to define the gene expression programs driving development of the murine palate. We focused on the E14.5 palate, soon after med...

As a ubiquitous, persistent environmental contaminant, 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) has the potential to cause lethal deformities in larval fishes. Few studies have examined its impacts on larval growth and craniofacial development in conjunction with feeding capability. The authors used morphological and behavioral assessments to demonstrate that feeding capability of larvae is i...

Here we report the successful generation and long-term expansion of SOX9-expressing CD271(+)PDGFRα(+)CD73(+) chondrogenic ectomesenchymal cells from the PAX3/SOX10/FOXD3-expressing MIXL1(-)CD271(hi)PDGFRα(lo)CD73(-) neural crest-like progeny of human pluripotent stem cells in a chemically defined medium supplemented with Nodal/Activin/transforming growth factorβ (TGFβ) inhibitor and fibroblast ...

The aim of this study was to investigate the effects of reverse headgear (RH) on pharyngeal airway morphology in two groups of Class III patients with different vertical craniofacial features in comparison with an untreated Class III group. Seventeen subjects (9 males, 8 females; mean age 11.3 ± 0.98 years) with optimum vertical growth and 17 subjects (10 males, 7 females, mean age 11.5 ± 1.1 y...

The specific contribution of enlarged tonsils or adenoids to craniofacial growth remains unknown, and there is no agreement in the literature as to the significance of lip posture. This study assessed the separate associations of lip posture, sagittal airway size, and tonsil size with selected cephalometric measures. Clinical and cephalometric data of 207 children who presented for evaluation o...

Bone morphogenetic protein (BMP) receptor type 1A (BMPR1A) mutations are associated with facial dysmorphism, which is one of the main clinical signs in both juvenile polyposis and chromosome 10q23 deletion syndromes. Craniofacial development requires reciprocal epithelial/neural crest (NC)-derived mesenchymal interactions mediated by signaling factors, such as BMP, in both cell populations. To ...

The purpose of this study was to investigate the relationship between craniofacial growth and skeletal maturation. The material consisted of the cephalometric and hand-wrist film pairs of 35 males and 43 females (78 subjects) whose development was followed for a period of 4 to 7 years. The subjects were grouped according to their skeletal maturation. Their mean ages were: Group I 10.27, Group I...

Inbred genetic background significantly influences the expression of phenotypes associated with known genetic perturbations and can underlie variation in disease severity between individuals with the same mutation. However, the effect of epistatic interactions on the development of complex traits, such as craniofacial morphology, is poorly understood. Here, we investigated the effect of three i...

Human birth defects are highly variable and this phenotypic variability can be influenced by both the environment and genetics. However, the synergistic interactions between these two variables are not well understood. Fetal alcohol spectrum disorders (FASD) is the umbrella term used to describe the wide range of deleterious outcomes following prenatal alcohol exposure. Although FASD are caused...