OBJECTIVES The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), ne...

The paper consists of three parts. Part 1: Definition of Syndromes. Focus is given to craniofacial syndromes in which abnormal traits in the dentition are associated symptoms. In the last decade, research has concentrated on phenotype, genotype, growth, development, function, and treatment. Part 2: Syndromes before Birth. How can the initial malformation sites in these syndromes be studied and ...

Thalassemia is a group of inherited diseases with a defect in the synthesis of hemoglobin. Severe thalassemic subjects suffer from craniofacial deformities and malocclusion due to bone marrow hyperplasia compensating for ineffective erythropoiesis. Blood transfusions are used to maintain life and reduce complications. The transfusions may have benefits in reducing craniofacial and dentition abn...

OBJECTIVES The aims were to investigate the effects of anterior-posterior upper cervical mobilization (APUCM) on pain modulation in craniofacial and cervical regions and its influence on the sympathetic nervous system. METHODS Thirty-two patients with cervico-craniofacial pain of myofascial origin were randomly allocated into experimental or placebo groups. Each patient received 3 treatments....

INTRODUCTION Dermoid cysts are common, benign, embryologically derived soft tissue cysts that can arise at a variety of craniofacial sites. It is not known whether specific histological variations exist between the different craniofacial sites. This study aims to establish whether inter-site histologic differences exist between periorbital, nasal, scalp, and postauricular dermoid cysts and anal...

The objective of the present work was to determine some relevant craniofacial parameters, particularly in relation to sex, for the study of the distribution of basic head and face types, and to investigate craniofacial and morphological differences between two population samples. The study sample comprised 100 subjects of both sex aged 18 to 30 from South Dalmatia and 200 subjects from Middle C...

Growth hormone (GH) secretion affects bone and cartilage physiology. This study investigated the effect of GH on the size of the craniofacial structures and their angular relationship. Three different models of mice with a genetically altered GH axis were used: GH excess (giant), dwarf GH antagonist (dwarf-Ant), and dwarf GH receptor knockout (dwarf-KO) mice. Each model was compared with the co...

This paper illustrates the surgical principles employed in the management of a case of incomplete nasomaxillary dysplasia or Tessier Type 11 Cleft. All pre-operative work-up on this case was performed at The Adelaide Children’s Hospital by members of The South Australian Craniofacial Unit and hospital staff. The surgical treatment was planned and executed by Professor 1. C. van der Meulen who w...

During vertebrate craniofacial development, neural crest cells (NCCs) contribute to most of the craniofacial pharyngeal skeleton. Defects in NCC specification, migration and differentiation resulting in malformations in the craniofacial complex are associated with human craniofacial disorders including Treacher-Collins Syndrome, caused by mutations in TCOF1. It has been hypothesized that pertur...

The association of bruxism with craniofacial pain and symptoms of dysfunction of the masticatory system was assessed in a sample of 483 adult subjects, aged 18-75 years and selected from the general population living in the municipality of Segrate, a metropolitan area in northern Italy. Subjects were interviewed by a questionnaire about oral conditions, occurrence of symptoms of masticatory dis...