Goldenhar or oculo-auriculo-vertebral (OAV) syndrome is a congenital disorder that is usually apparent at birth. Sometimes, its diagnosis can be delayed and it is first diagnosed in adolescents or adults. We present a case of an 18-year girl who presented with chief complaint of multiple carious teeth and was found to have abnormal facies. On examination, it was found that the patient had asymmetry of face due to hypoplastic maxilla and mandible on the left side. Patient also had presence of ocular dermoid in the left eye, pre-auricular tags, scoliotic posture, ankyloglossia and fissured tongue, which were in accordance with OAV syndrome. This case report unveils the need for an early diagnosis and prompt treatment of the anomalies found in this syndrome.
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http://dx.doi.org/10.29271/jcpsp.2019.11.1108 | DOI Listing |
Am J Med Genet A
January 2023
Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades (AP-HP centre), Paris, France.
Developmental abnormalities provide a unique opportunity to seek for the molecular mechanisms underlying human organogenesis. Esophageal development remains incompletely understood and elucidating causes for esophageal atresia (EA) in humans would contribute to achieve a better comprehension. Prenatal detection, syndromic classification, molecular diagnosis, and prognostic factors in EA are challenging.
View Article and Find Full Text PDFOral Radiol
January 2022
Center for Cause of Death Investigation, Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Objectives: Obstructive sleep apnea syndrome (OSAS) induces upper airway occlusion and may cause sudden death during sleep. This study sought to clarify the relationship between oral air space volume and OSAS onset, which is influenced by multiple factors, such as jawbone, dentition morphology, and oral soft-tissue volume.
Methods: (1) 50 subjects from deceased cases were divided into two groups: OSAS (25 subjects) and controls (25 subjects).
J Coll Physicians Surg Pak
November 2019
Department of Oral Medicine and Radiology, D Y Patil University, School of Dentistry, Nerul, Navi Mumbai, India.
Goldenhar or oculo-auriculo-vertebral (OAV) syndrome is a congenital disorder that is usually apparent at birth. Sometimes, its diagnosis can be delayed and it is first diagnosed in adolescents or adults. We present a case of an 18-year girl who presented with chief complaint of multiple carious teeth and was found to have abnormal facies.
View Article and Find Full Text PDFJ Dairy Sci
December 2019
Department of Animal Reproduction (INIA), UCM, 28040 Spain. Electronic address:
Right displaced abomasum (RDA) and abomasal volvulus (AV) are common diseases in cattle. However, presently there is no consensus regarding the pathogenesis and nomenclature of the different positions that the abomasum can adopt in the right side of the cow. Therefore, the objective of this study was to describe the etiopathogenesis of the right displaced abomasum according to the description of the features observed in 268 cows with left displaced abomasum (LDA), which were rolled to induce the movement of the abomasum from the left side to the right (in fact, inducing an RDA in 44% of cases), to facilitate the surgical approach, and immediately surgically treated (abomasal omentopexy from the right side).
View Article and Find Full Text PDFAm J Med Genet A
March 2018
Department of Morphology and Genetics, Federal University of São Paulo, São Paulo, Brazil.
The oculoauriculovertebral spectrum (OAVS) is characterized by anomalies involving the development of the first and second pharyngeal arches during the embryonic period. The phenotype is highly heterogeneous, involving ears, eyes, face, neck, and other systems and organs. There is no agreement in the literature for the minimum phenotypic inclusion criteria, but the primary phenotype involves hemifacial microsomia with facial asymmetry and microtia.
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