Search results for "Craniofacial"
showing 10 items of 105 documents
The bite force and craniofacial morphology in patients with acromegaly: A pilot study
2013
Objectives: Acromegaly is a metabolic disorder caused by increased growth hormone secretion. As a consequence of acromegaly some typical craniofacial morphology changes appear. This pilot study was conducted to compare the bite force and the characteristic size and shape of the craniofacial components of acromegalic patients with the healthy Turkish individuals. In additon, the correlations between bite force and craniofacial morphology of patients with acromegaly and control individuals were evaluated. Study Design: The maximum bite force of the participants was recorded with strain-gage transducer. Lateral xray scans were made under standard conditions, in centric occlusion. On cephalogra…
Nasal airway, lip competence, and craniofacial morphology
1993
The aim of the present investigation was to demonstrate whether children selected by their open lip posture show differences in their nasal airway resistance and facial morphology compared to children with closed lip closure. Thirty-two children with poor lip competence were compared to a control group of 20 with secure mouth closure. Patients with poor lip competence showed a significantly higher ML-NSL angle and also ML-NL angle. Anterior rhinomanometry, as well as measurements of the pharyngeal space on lateral headfilms, displayed no significant differences between the two groups. The same material was also grouped cephalometrically into skeletal open and skeletal deep bite configuratio…
10qter deletion: A new case
2008
Vertebrate telomeres consist of tandem repeats of the TTAGGG sequence that cap the ends of chromosomes, protecting them from degradation and fusion. Extensive evidence has shown that telomere shortening and erosion lead lo chromo¬some end-to-end fusions and genomic instability, causing mental retardation and/or malformation syndromes. So far, over 19,000 patients with mental retardation have been tested and reported of whom -2.5% appeared to have a subtelomeric rearrange¬ment [Ravnan et al., 2006; Ballif et al., 2007; Ledbetter and Martin, 2007]. Since the identification of sub¬microscopic subtelomeric rearrangements as a major cause of mental retardation [Flint et al., 1995], testing for s…
Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.
2013
We report on three males with de novo overlapping 7.5, 9.8, and 10 Mb duplication of chromosome 20q11.2. Together with another patient previously published in the literature with overlapping 20q11 microduplication, we show that such patients display common clinical features including metopic ridging/trigonocephaly, developmental delay, epicanthal folds, and short hands. The duplication comprised the ASXL1 gene, in which de novo heterozygous nonsense or truncating mutations have recently been reported in patients with Borhing-Opitz syndrome. Because of craniofacial features in common with Borhing-Opitz syndrome, in particular metopic ridging/trigonocephaly, we suggest that duplication of ASX…
Baraitser-Winter cerebrofrontofacial syndrome : Delineation of the spectrum in 42 cases
2015
International audience; Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode beta- and gamma-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly proven actinopathy (9 ACTG1 and 33 ACTB). The major clinical anomalies are striking dysmorphic facial features with hypertelorism, broad nose with large tip and prominent root, congenital non-myopathic ptosis, ridged metopic suture and arched eyebrows. Iris…
Association between third molar agenesis and craniofacial structure development
2015
Introduction The aim of this investigation was to study the relationship between third molar agenesis—including the number of ageneses—and craniofacial structure growth. Methods We reviewed 305 clinical histories of patients treated at the Orthodontics Unit of the Faculty of Medicine and Dentistry at the University of Valencia in Spain. This included radiographic records of optimal quality. Of these, 40 patients who had agenesis of at least 1 third molar were included in the study group. A control group was formed with another 40 patients with all 4 third molars present. For both groups, a further criterion for inclusion was cone-beam computed tomography records. The cephalometric analysis …
Orofacial pain of cardiac origin, serial of clinical cases
2012
Objective: To determine the clinical characteristics of the orofacial pain of cardiac origin in patients visited when doing a treadmill exercise test, at the cardiology service of the Can Ruti Hospital in Badalona (Barcelona, Spain). Study design: The sample of that study included thirty patients visiteding when doing a treadmill exercise test, at the cardiology service. The questionnaire has been asked to a sample of 30 patients. Results: Eleven of the 30 patients included in this study presented craniofacial pain before or during the cardiac seizure. The location of the pain was bilateral, non-irradiated at the mandible in all cases. The intensity of the pain was from slight to severe. Th…
Prevalence and risk factors for sensorineural hearing loss: Western Sicily overview.
2013
The objective of this work was to evaluate the prevalence of sensorineural hearing loss (SNHL) and distribution of the main risk factors associated to it focusing on their role in the development of deafness and their interaction. We performed a global audiological assessment (through TEOAE, tympanometry and ABR) in 508 infants at risk studying the main risk factors reported by Joint Committee on Infant Hearing (2007). Fifty-one infants (10.03 %) were diagnosed with SNHL (45 bilateral and 6 unilateral) with a mean hearing threshold of 87.39 ± 28.25 dB HL; family history of hearing impairment (HI) and TORCH infections indicated independent significant risk factors (P < 0.00001 and P = 0.0…
Alveolar graft in the cleft lip and palate patient: Review of 104 cases
2014
Introduction: Alveolar bone grafting is a vital part of the rehabilitation of cleft patients. The factors that have been most frequently associated with the success of the graft are the age at grafting and the pre-grafting orthodontic treatment. Objectives: 1) Describe the cases of alveolar bone grafts performed at the Maxilofacial Unit of Hospital Sant Joan de Déu, Barcelona (HSJD); and 2) Analyze the success/failure of alveolar grafts and related variables. Material and Methods: Descriptive retrospective study using a sample of 104 patients who underwent a secondary alveolar graft at the Craniofacial Unit of HSJD between 1998 and 2012. The graft was done by the same surgeon in all patient…
Endoscopic Intracranial Craniofacial and Monobloc Osteotomies with the Aid of a Malleable High-Speed Pneumatic Drill: A Cadaveric and Clinical Study
2000
Endoscopic techniques are now an accepted part of the surgical armamentarium and are used routinely in a number of aesthetic and reconstructive procedures. Endoscopic techniques are now being used commonly by plastic surgeons in forehead and face lifts. In both craniofacial surgery and in neurosurgery, the application of endoscopy potentially allows the surgical team to perform wide dissection of the dura mater in a minimally invasive fashion, thereby potentially reducing the risk of dural and brain injury. Also reduced by this surgical approach is potential injury to the major venous structures, such as the sagittal sinus, along with overall reduced bleeding. After an extensive laboratory …