Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients admitted for HCFP in a large consanguineous Turkish family. High-throughput sequencing and Sanger sequencing of all patients revealed a novel homozygous mutation p.Arg230Trp (c.688C>T) within the HOXB1 gene. The report of the mutation brings the total number of HOXB1 mutations identified in HCFP to four. The results of this study emphasize that in individuals with congenital facial palsy accompanied by hearing loss and dysmorphic facial features, HOXB1 mutation causing HCFP should be kept in mind.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.braindev.2016.09.002 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Surviving the Nightmare: Massive Bleeding From Large Intraoral Arteriovenous Malformation During Airway Management for Angioembolization Procedure.
Case Rep Anesthesiol
December 2024
Department of Anaesthesiology, Aga Khan University Hospital, Karachi, Pakistan.
Arteriovenous malformations (AVMs) in the head and neck present significant challenges due to airway management complexities and hemorrhage risks. This case report describes a 15-year-old female with a congenital facial AVM causing dyspnea and obstructive symptoms. The patient required angioembolization of the AVM, but many hospitals deferred the procedure due to the anticipated difficult airway and severe bleeding risks.
View Article and Find Full Text PDFDigital planning and decision making for severe congenital oligodontia with Angle class-III malocclusion - Case series.
J Craniomaxillofac Surg
December 2024
Department of Oral and Maxillofacial Surgery, Rambam Health Care Campus, Haifa, Israel; Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel; Department of Oral and Maxillofacial rehabilitation, Rambam Health Care Campus, Haifa, Israel.
As maxillofacial surgery becomes increasingly digitized and the transformative impact of pre-surgical scanning and computer simulation is recognized, this clinical paper presents an algorithm for the selection of interventions in severe congenital oligodontia with Angle class-III malocclusion (OCIII) utilizing such technologies. A complex, multifactorial condition with varying degrees of craniofacial involvement, OCIII is associated with edentulous facial appearance, mandibular prognathism and deep underbite, as well as malocclusion. Our methodology involves the integration of CBCT imaging, intra- and extra- oral scanning, and 3D planning with the assessment of bone volume, number of missing teeth, skeletal discrepancies, and patient compliance in the selection of suitable treatments.
View Article and Find Full Text PDFUsefulness of the "En face view" method for diagnosing perimembranous ventricular septal defects.
J Echocardiogr
December 2024
Division of Cardiovascular Surgery, Nagano Children's Hospital, Nagano, Japan.
Background: Perimembranous ventricular septal defect (VSD) can be classified as having trabecular, inlet, or outlet extension. The surgical approach used in patch closure depends on the which valve of the tricuspid valve to suture around and the avoidance of the specialized conducting system. This retrospective study evaluated the usefulness of the "En face view" method for classifying perimembranous VSD.
View Article and Find Full Text PDFEvaluation of Facial Symmetry in Congenital Unilateral Lower Lip Palsy Patients with Depressor Labii Inferioris Muscle Resection.
Aesthetic Plast Surg
December 2024
Plastic Surgery Department, China-Japan Friendship Hospital, No. 2 Cherry Garden East Street, Chaoyang District, Beijing, 100029, China.
Background: Congenital hypoplasia of the depressor labii inferioris muscle can lead to Asymmetrical crying facies(ACF). The objective of this research was to examine the alterations in both static and dynamic facial symmetry following the resection of the depressor labii inferioris on the healthy side through an intraoral approach.
Methods: Patients exhibiting palsy of the depressor labii inferioris muscles were included in the study.
Antenatal detection of pediatric surgical congenital abnormalities and its effect on maternal anxiety: a multicentre prospective study in a middle-income country.
Pediatr Surg Int
December 2024
Division of Paediatric & Neonatal Surgery, Department of Surgery, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.
Background: In middle-income countries, healthcare systems face unique challenges in ensuring timely antenatal detection of congenital abnormalities that require pediatric surgical intervention. Early detection can significantly improve outcomes, yet resource constraints often limit access to diagnostic technologies. This study evaluates the antenatal detection rate of congenital abnormalities referred to pediatric surgical services in three Malaysian tertiary centers and examines its effect on maternal anxiety.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!