Search results for "Clef"
showing 10 items of 74 documents
TCTN3 Mutations Cause Mohr-Majewski Syndrome
2012
Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome). Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in un…
A recurrent TP63 mutation causing EEC3 and Rapp–Hodgkin syndromes
2016
The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with the previously reported c.1028G>A (p.Arg343Gln) mutation in exon 8 of TP63. The mother lacked ectrodactyly, indicating a diagnosis of RHS, whereas the girl presented with all three major features (ectrodactyly, ectodermal dysplasia, clefting) and different minor features (including small and brittle nails, and recurrent conjunctivitis believed to be because of stenotic and blo…
The impact of orthognathic surgery on quality of life in individuals with oral clefts
2021
Summary Background/objectives To evaluate the relationships between individual, environmental, clinical factors and oral health-related quality of life (OHRQoL) in patients with cleft lip and palate (CLP) following orthognathic surgery. Materials and methods A follow-up study was conducted involving 69 adults with unilateral and bilateral CLP under orthodontic treatment. Interviews and oral examinations were conducted prior to orthognathic surgery (T0) to evaluate age, gender, psychological well-being, dental caries, malocclusion, social support, social networks, family income and education and OHRQoL. All participants were reviewed after 6 months (T1) to re-assess psychological well-being,…
Dental anomalies inside the cleft region in individuals with nonsyndromic cleft lip with or without cleft palate
2015
Background Individuals with non syndromic cleft lip with or without cleft palate (NSCL±P) present high frequency of dental anomalies, which may represent complicating factors for dental treatment. The aim of this study was to investigate the prevalence of dental anomalies inside cleft area in a group of Brazilians with NSCL±P. Material and Methods Retrospective analysis of 178 panoramic radiographs of patients aged from 12 to 45 years old and without history of tooth extraction or orthodontic treatment was performed. Association between cleft type and the prevalence of dental anomalies was assessed by chi-square test with a significance level set at p≤ 0.05. Results Dental anomalies were fo…
Analyzing the teeth next to the alveolar cleft: Examination and treatment proposal prior to bone grafting based on three-dimensional versus two-dimen…
2016
Abstract Purpose The objective was to evaluate the diagnostic and prognostic value of three-dimensional (3D) cone beam computed tomography (CBCT) on information about the cleft and alignment of cleft neighboring teeth. Materials and methods Panoramic X-rays, small-volume CBCTs, and study casts of 20 patients with a total of 22 alveolar clefts were analyzed prior to secondary bone grafting. Six maxillofacial surgeons and 6 orthodontists rated the following parameters: visibility of alveolar cleft expansion, position and probability of alignment of cleft neighbored teeth. Two-dimensional (2D) X-rays and casts were rated first; CBCT and casts followed at least 4 weeks later. Radiologic bone he…
Genome-wide association data provide further support for an association between 5-HTTLPR and major depressive disorder.
2013
Abstract Background Dysfunctions of serotonergic neurotransmission are supposed to be involved in the pathogenesis of psychiatric disorders such as major depressive disorder (MDD). The concentration of serotonin (5-hydroxytryptamine, 5-HT) in the synaptic cleft is essentially regulated by the 5-HT transporter (5-HTT). A length polymorphism repeat in the 5-HTT promoter region, termed 5-HTTLPR, has been commonly investigated for an association with psychiatric disorders. Methods Genotyping of the 5-HTTLPR is time-consuming and technically challenging. Recently, a two-SNP haplotype was identified that tags the 5-HTTLPR at r 2 =0.775. This allows extraction of 5-HTTLPR genotype information from…
Single horizontal Y-V vermilion plasty including orbicularis oris muscle repair for secondary correction of the whistling defect: a universal techniq…
2012
Objectives: The present prospective study aimed at objectively evaluating the relevance of a single horizontal Y-V vermilion plasty including orbicularis oris muscle repair for secondary correction of whistling deformities in unilateral as well as bilateral cleft lip cases. Study Design: Ten patients were included in the study (mean age 20.2±6.2 years). The size of the whistling defects was determined on photographs before and 12 months after surgery. Additional surgical procedures like columella lengthening and rhinoplasty were documented. Results: Seven minor and 3 moderate whistling defects were corrected. In 7 patients additional procedures were carried out. The data of the 12 months fo…
Block iliac bone grafting enhances osseous healing of alveolar reconstruction in older cleft patients: A radiological and histological evaluation
2018
Background Older alveolar cleft patients (&12 years old) often have wide bone defect as well as teeth loss, resulting in poor osseous healing with conventional alveolar bone grafting (ABG). In this study, we investigated a surgical technique of block iliac bone grafting for the alveolar cleft reconstruction and evaluated the clinical and radiological outcomes of these cleft patients. Material and Methods Fifteen patients were included in this study. All cases received preoperative cone bean computed tomography (CBCT) scans for the alveolar cleft evaluation. Osseous outcomes of block iliac bone grafting were assessed at 1 week, 3- and 6-month postoperatively. Volume changes and bone resorpti…
[Double second branchial cleft anomaly].
2009
Second branchial cleft anomalies are the most common of this type of neck masses. They can be classified in four types (Bailey/Proctor classification) according to their location. Type II is the most common, and related to vital neck structures such as the carotid artery and jugular vein. Cysts are the most frequent among them. Management consists of surgical excision of the cyst and tract by cervicotomy to avoid recurrence. We present an extremely rare case of a 32-year-old male who presented a sudden appearance of a right lateral neck mass that was identified by an image study as a double branchial cleft cyst. A review of simultaneous branchial cleft cyst in the literature is also made.
Nasal airway in cleft-palate patients: acoustic rhinometric data
1997
The objective of this study was to investigate an instrumental assessment technique for acquiring reproducible, metric data on the nasal airway in cleft-palate associated nasal dysplasia. A consecutive sample of 23 unilateral, 17 bilateral CLP patients and 15 controls with subjective normal nasal patency from a cleft-palate rehabilitation centre were studied. A series of transnasal acoustic measurements (pressure wave: 55 dB for 2 ms) of nasal volume were performed before and after topical decongestion with 2 x 0.3 mg of xylometazoline. A standardized regimen of acoustic parameters of the nasal valve and the adjacent segment of the nasal cavity were calculated. The cleft side yielded a sign…