Costello syndrome (CS) is a RASopathy characterized by a wide range of cardiac, musculoskeletal, dermatological, and developmental abnormalities. The RASopathies are defined as a group of syndromes caused by activated Ras/mitogen-activated protein kinase (MAPK) signaling. Specifically, CS is caused by activating mutations in HRAS. Although receptor tyrosine kinase (RTK) signaling, which is upst...

Children with reduced somatic growth may present various endocrinal diseases, especially growth hormone deficiency (GHD), idiopathic short stature (ISS), chromosomal aberrations, or genetic disorders. In an attempt to normalize the short stature, growth hormone (GH) is administered to these children. The aim of this literature review was to collect information about the craniofacial morphology ...

Growth of the craniofacial skeleton is a complex process controlled by both genetic and epigenetic factors, perturbations of which can lead to varying degrees of dysmorphology. Mouse models that recapitulate clinical craniofacial phenotypes are instrumental in studying the morphogenetic progression of diseases as well as uncovering their genetic and molecular bases. Commonly encountered phenoty...

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...

In an attempt to regain function and aesthetics in the craniofacial region, different biomaterials, including titanium, hydroxyapatite, biodegradable polymers and composites, have been widely used as a result of the loss of craniofacial bone. Although these materials presented favorable success rates, osseointegration and antibacterial properties are often hard to achieve. Although bone-implant...