A5038222707- Connective tissue disorders research
- dental development and anomalies
- Bone and Dental Protein Studies
- Craniofacial Disorders and Treatments
- TGF-β signaling in diseases
- Cleft Lip and Palate Research
- Bone health and treatments
National Institute of Dental and Craniofacial Research
2020-2021
National Institutes of Health
2021
Background Loeys-Dietz syndrome (LDS), an autosomal dominant rare connective tissue disorder, has multisystemic manifestations, characterised by vascular tortuosity, aneurysms and craniofacial manifestations. Based on the associated gene mutations along transforming growth factor-beta (TGF-β) pathway, LDS is presently classified into six subtypes. Methods We present oro-dental features of a cohort 40 patients with from five Results The most common manifestations were presence high-arched...
Elevated transforming growth factor-beta (TGF-β) signalling has been implicated in the pathogenesis of Loeys-Dietz syndrome (LDS) and Shprintzen-Goldberg (SGS). In this study, we provide a qualitative quantitative analysis craniofacial functional features among LDS subtypes SGS.We explore variability within across cohort 44 patients through deep clinical phenotyping, three-dimensional (3D) facial photo surface analysis, cephalometric geometric morphometric analyses cone-beam CT scans.The...
In this case report, we focus on Muenke syndrome (MS), a disease caused by the p.Pro250Arg variant in fibroblast growth factor receptor 3 (FGFR3) and characterized uni- or bilateral coronal suture synostosis, macrocephaly without craniosynostosis, dysmorphic craniofacial features, dental malocclusion. The clinical findings of MS are further complicated variable expression phenotypic traits incomplete penetrance. As such, unraveling mechanisms behind will require comprehensive systematic way...