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Auriculocondylar Syndrome

Hemifacial microsomia


Presentation

  • In addition to ACS, the patient harbouring a homozygous deletion presented with central apnoea, a phenotype that has not been previously reported in ACS patients.[ncbi.nlm.nih.gov]
  • Bridging the gap between dentistry and medical radiology, this up-to-date volume covers the anatomic zones, imaging modalities, patient conditions, and presenting clinical signs and symptoms shared by dentistry and medicine.[books.google.com]
Physician
  • Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and[books.google.com]
  • Edge Received income in an amount equal to or greater than 250 from: The Physicians Edge, Cliexa Received stock from RxRevu; Received ownership interest from Cerescan for consulting; for: Rxblockchain;Bridge Health.[emedicine.medscape.com]
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • A team of physicians at the University of Washington Medical Center, where she was born, and experts from nearby Seattle Children's whisked Lexi away from her mom immediately so they could place a tube in her nose that would hopefully allow her to breathe[cbsnews.com]
Falling
  • Targeted sequencing of EDN1 in an ACS individual with related parents identified a fourth, homozygous mutation falling close to the site of cleavage by endothelin-converting enzyme.[ncbi.nlm.nih.gov]
  • The parents of the boy gave a history of fall from a running tractor when he was only 4-years old. In the accident, he had sustained trauma to his abdomen for which an abdominal exploration was done.[jmedsoc.org]
  • Surgical procedures to repair the cleft palate, details of which are not included herein, fall into 1 of 2 categories.[emedicine.medscape.com]
Fatigue
  • Research output : Contribution to journal › Article › Research › peer-review A discrete element modelling approach for fatigue damage growth in cemented materials Nguyen, N. H. T., Bui, H.[monash.edu]
  • Trigger factors include fatigue, and exposure to sunlight. Oral lesions profiles showed as ulcers (93%). Small sized 1-10 mm, multiple (71%), extensive on more than 3 locations (50%), most site at tongue and also buccal mucosa.[repository.trisakti.ac.id]
Pharyngitis
  • KEYWORDS: Auriculocondylar syndrome; PLCB4; Pierre Robin sequence; clinical heterogeneity; ear dysplasia; micrognathia; pharyngeal arch; question mark ear[ncbi.nlm.nih.gov]
  • Studies in animal models have indicated the essential role of endothelin 1 (EDN1) signaling through the endothelin receptor type A (EDNRA) in patterning the mandibular portion of the first pharyngeal arch.[pesquisa.bvsalud.org]
  • It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter‐ and intra‐familial clinical variability, with some patients not presenting the typical phenotype of the syndrome.[ingentaconnect.com]
Osteoporosis
  • […] information on nearly 400 diagnoses that are clearly illustrated with over 1,000 superb images Meticulously updated, with new and extended chapters on TMJ, systemic diseases (with new chapters on hyperparathyroidism, segmental odontomaxillary dysplasia, and osteoporosis[books.google.com]
  • […] dysostosis of Weyers , see Weyers acrofacial dysostosis acroerythrokeratoderma , see mal de Meleda acrofacial dysostosis 1, Nager type , see Nager syndrome acromicric dysplasia acroosteolysis dominant type , see Hajdu-Cheney syndrome acroosteolysis with osteoporosis[herenciageneticayenfermedad.blogspot.com]
Pierre Robin Syndrome
  • Godbout et al (2013) published a study comparing anatomical cleft parameters between isolated cleft palate patients and Pierre Robin syndrome patients. [2] They concluded that cleft palate Pierre Robin syndrome patients present statistically significant[emedicine.medscape.com]
  • Apert syndrome (Medical Encyclopedia) Cleidocranial dysostosis (Medical Encyclopedia) Craniosynostosis (Medical Encyclopedia) Craniosynostosis repair (Medical Encyclopedia) Head and face reconstruction (Medical Encyclopedia) Pierre Robin syndrome (Medical[icdlist.com]
  • Pierre Robin sequence (PRS; also known as Robin sequence, Robin complex, Pierre Robin syndrome, Pierre Robin triad, or Robin anomalad) is a constellation of congenital abnormalities that includes glossoptosis, micrognathia, and cleft palate.[clinicaladvisor.com]
Suggestibility
  • We suggest that PLCB4 and GNAI3 are core signaling molecules of the endothelin-1-distal-less homeobox 5 and 6 (EDN1-DLX5/DLX6) pathway.[ncbi.nlm.nih.gov]
  • The narrow distribution of mutations within protein space suggests that the mutations may result in dominantly interfering proteins, rather than haploinsufficiency.[rug.nl]
Withdrawn
  • Autosomal recessive inheritance ; Bifid uvula ; Bilateral conductive hearing impairment ; Full cheeks ; Glossoptosis ; Laryngeal cleft ; Micrognathia ; Question mark ear ; Retrognathia ; Stenosis of the external auditory canal Associated Genes EDN1 (Withdrawn[mousephenotype.org]

Treatment

  • A detailed step by step approach to orthodontic treatment with contemporary fixed appliances, from diagnosis to finishing.[books.google.com]
  • What are the adverse effects associated with each treatment option? See Table I for treatment options and associated adverse effects. Table I.[clinicaladvisor.com]
  • The literature reveals three options for treatment: surgical measures, chemotherapy and radiation therapy. The intensity of symptoms is very important in choosing the correct treatment.[scielo.br]

Prognosis

  • (Outcomes/Resolutions) The prognosis of Auriculo-Condylar Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms and[dovemed.com]
  • Prognosis: As PRS typically affects airway and feeding, success in managing these two aspects determines prognosis.[clinicaladvisor.com]
  • "Ophthalmic features and visual prognosis in the Treacher-Collins syndrome" . British Journal of Ophthalmology . 77 (10): 642–645. doi : 10.1136/bjo.77.10.642 . PMC 504607 .[en.wikipedia.org]
  • Conclusion: Prognosis of complicated crown fractures at maxillary right central incisor treated by endodontic treatment is good.[repository.trisakti.ac.id]

Etiology

  • Etiology and Pathogenesis Frequency This heterogeneous birth defect has a prevalence of approximately 1 per 8500 live births. The male-to-female ratio is 1:1, except in the X-linked form. Etiology Autosomal recessive inheritance is possible.[emedicine.medscape.com]
  • It was not associated with any soft tissue aberrations suggestive of any syndromic etiology. Aplasia is a rare anomaly and refers to the insufficient development of the mandibular condyle. True agenesis of the mandibular condyle is extremely rare.[jmedsoc.org]
  • (Etiology) Auriculo-Condylar Syndrome may be caused by mutation(s) in GNA13 or PLCB4 genes.[dovemed.com]
  • Stanojevic, M, Stipoljev, F: Oculoauriculo-vertebral (Goldenhar) spectrum associated with pericentric inversion 9: Coincidental findings or etiologic factor? J Craniofac Genet Dev Biol 20: 150 – 154 , 2000 . Google Scholar 27.[journals.sagepub.com]
  • Etiology This condition can be classified as a disease of the first and second embryonic pharyngeal arches and is characterized by significant intra- and interfamilial phenotypic variation.[rarediseases.info.nih.gov]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.com]
  • Relevant External Links for PLCB4 Genetic Association Database (GAD) PLCB4 Human Genome Epidemiology (HuGE) Navigator PLCB4 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PLCB4 No data available for Genatlas for PLCB4 Gene cDNA sequence[genecards.org]
  • Epidemiology So far, ACS has been reported in six multigenerational families.[rarediseases.info.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • Pathogenesis Three pathophysiological theories exist to explain the occurrence of Pierre Robin sequence. The mechanical theory: This theory is the most accepted.[emedicine.medscape.com]
  • Familiarity with craniofacial embryology and its associated effects on resultant anatomy also leads to a better understanding of the pathophysiologic basis of craniofacial syndromes.[ajnr.org]

Prevention

  • How can Auriculo-Condylar Syndrome be Prevented? Auriculo-Condylar Syndrome may not be preventable, since it is a genetic disorder.[dovemed.com]
  • ., Mar 2019, In : Journal of Cardiopulmonary Rehabilitation and Prevention. 39, 2, p. 85-90 6 p.[monash.edu]
  • Dental health education ; Dental caries - Prevention ; Dental caries - Prevention and control ; Dental plaque ; Food habits Background: Caries is a disease caused by the interaction between of bacterial plaque, diet, and the teeth.[repository.trisakti.ac.id]
  • As the therapy of choice to correct the conductive hearing loss and prevent middle ear complications, tympanostomy tubes are usually inserted when the palatoplasty is performed.[emedicine.medscape.com]

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