Search results for "Cleft Palate"
showing 10 items of 42 documents
Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report.
2020
Abstract Background Hirschsprung disease, the most important congenital colonic dysmotility in children results from neural crest migration, differentiation, proliferation, or apoptosis defects where the rearranged during transfection (RET)-Protooncogene pathway has a central role. Although palatal and retinal anomalies in the context of chromosomopathies and some mono−/oligogenic syndromes are reported associated with Hirschsprung disease the role of inactivating RET mutations in these cases is not clarified. Case presentation We report on a dysmorphic newborn with cleft palate and palatal synechia, who showed intestinal obstruction after 24 h of life. Transient ileostomy and surgical biop…
Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies
2016
Objective: To test previous signals of a risk of orofacial cleft (OC) and clubfoot with exposure to the antiepileptic lamotrigine, and to investigate risk of other congenital anomalies (CA).Methods: This was a population-based case–malformed control study based on 21 EUROCAT CA registries covering 10.1 million births (1995–2011), including births to 2005 in which the clubfoot signal was generated and a subsequent independent study population of 6.3 million births. A total of 226,806 babies with CA included livebirths, stillbirths, and terminations of pregnancy following prenatal diagnosis. First-trimester lamotrigine monotherapy exposure in OC cases and clubfoot cases was compared to other …
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,…
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…
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…
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…
Acoustic Airway Profiles in Unilateral Cleft Palate Patients
1999
Objective: This study investigates the nasal airway in unilateral cleft palate patients by means of a noninvasive, objective diagnostic method that provides topographic information about the airway profile. Design: A consecutive sample of patients was measured. Setting: Cleft palate rehabilitation center of the University of Mainz, Germany. Patients: Forty-nine subjects were investigated: 34 full-grown patients with complete unilateral cleft lip and palate and 15 controls with subjective normal nasal patency. Intervention: A transnasal series of three acoustic measurements of nasal volume was performed per nostril; measurements were taken both before and after decongestion with 0.3 mg xylom…
Evidence for transforming growth factor-beta 3 gene polymorphism in non-syndromic cleft lip and palate patients from indian sub-continent
2011
Objectives: Orofacial clefts are major human birth defects with complex etiology. Previous studies have proposed Transforming growth factor - beta 3 (TGF-β3) gene as a key player in contributing to non-syndromic cleft lip and palate, however none of the studies have yet included Indian population. Hence this study was designed to detect TGF-β3 gene polymorphism in nonsyndromic cleft lip and palate patients from Indian population which is genetically distinct from previously studied populations. Study Design: Peripheral blood samples of forty non-syndromic cleft lip and palate patients and forty unaffected individuals were collected for a case – control study design. Ethical clearance from t…