Many therapeutic approaches, including mandibular surgery, have been proposed for the treatment of obstructive sleep apnoea syndrome. In the largest study of its type yet reported, 54 patients (population A) underwent mandibular surgery: 36 had palato-pharyngoplasty and inferior sagittal osteotomy of the mandible with hyoid myotomy and resuspension, and 18 (population B) had maxillo-mandibular ...

We present a 12-year-old girl with karyotype 46,XX. A comparative genomic hybridization array revealed a 3.172-Mb microduplication on 22q11.2. This chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes; a large majority of them have identical 3-Mb duplications. The girl presented mild mental motor retardation, facial dysmorphism consisting of a ...

Otolaryngologists are being asked with increasing frequency to assess adequacy of the upper airway and to treat upper airway obstructive problems in orthodontic patients. The incentive has been provided by recent studies that purport to relate upper airway obstruction to dental and craniomorphologic changes. It is hypothesized that prolonged oral respiration during critical growth periods in ch...

7q11.23 duplication syndrome is a disease caused by duplication of a region of chromosome 7 comprising 26 genes. The first case described in the literature was reported by Somerville et al. in 2005, who described a patient with dolichocephaly, high and narrow forehead, long eyelashes, high and wide nose, short philtrum, high arched palate, dental malocclusion, retrognathia, and severe language ...

Marfan syndrome is a heritable disorder of connective tissue that can affect the heart, blood vessels, lungs, eyes, bones and ligaments. It is characterized by tall stature, elongated extremities, scoliosis and a protruded or caved-in breastbone. Patients typically have a long, narrow face. A high-arched palate produced by a narrow maxilla and skeletal Class II malocclusion due to mandibular re...

The aim of this paper is to report the oral signs and symptoms of four patients with Kabuki syndrome. All had oral abnormalities affecting the palate, teeth, and/or lips, including wide spacing between the teeth, screwdriver-shaped upper incisors, hypodontia, delayed tooth eruption, narrow spacing in the upper canine area, large pulp chambers of the upper incisors and permanent molars, external...

OBJECTIVE To define the relative position of the maxilla and mandible in fetuses with trisomy 18 at 11 + 0 to 13 + 6 weeks of gestation. METHODS A three-dimensional (3D) volume of the fetal head was obtained before karyotyping at 11 + 0 to 13 + 6 weeks of gestation in 36 fetuses subsequently found to have trisomy 18, and 200 chromosomally normal fetuses. The frontomaxillary facial (FMF) angle...

Patients with juvenile idiopathic arthritis (JIA) can have alterations in bone metabolism and skeletal growth, as well as damage to the temporomandibular joint (TMJ), which can generate extra and/or intraoral alterations, resulting in craniofacial disorders. Our goal is to carry out a review of the literature on orofacial alterations in patients with JIA. Among the orofacial disorders in patien...

Temporomandibular joint (TMJ) involvement is common but usually delayed in patients with juvenile idiopathic arthritis (JIA). We describe the case of a JIA patient with bilateral TMJ involvement, mandibular retrognathia, bone erosion, and severely restricted mouth opening. The use of cone beam computed tomography and a 3D diagnostic protocol in young patients with JIA provides reliable, accurat...

The physiopathology of obstructive sleep apnea syndrome is multifactorial. Gender and obesity status, as well as genetic, anatomic, and hormonal factors, together with ventilatory drive, interact in a diverse manner in the physiopathology and clinical expression of the disease. Obesity is the main risk factor, since increases in body mass index, visceral fat, and neck circumference are strong p...