Results 11 to 20 of about 12,560 (202)
Indian Journal of Plastic Surgery, 2014 The term orbital hypertelorism (ORH) implies “widely apart orbits.” This may also be associated with the abnormal vertical orientation of the orbits (dystopia).
Ramesh K. Sharma
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Prevalence and characteristics of pediatric hypertelorism: insights from Ugwolawo, Kogi State, Nigeria [PDF]
Novelty in Clinical Medicine, 2023 Background: Hypertelorism is a medical condition characterized by an abnormally increased distance between two organs or structures, particularly the eyes.Objectives: The study aims to investigate the prevalence and characteristics of hypertelorism among
Nathaniel Ohiemi Amedu +3 more
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miR-383-3p and miR-6951-3p activate cell proliferation through the regulation of genes related to hypertelorism [PDF]
Frontiers in Cell and Developmental BiologyHypertelorism, characterized by an abnormal increase in the distance between the eyes, is often associated with various congenital birth defects. While there is increasing evidence suggesting common underlying mechanisms for hypertelorism, the role of ...
Chihiro Iwaya +2 more
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The Turkish Journal of Pediatrics, 2020 Background. Chronic sinusitis and its complications are common in patients with cystic fibrosis. Mucoceles are one of these complications and can have life-threatening consequences if left untreated. Case.
Orhan Tunç +4 more
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Bilateral cleft lip and palate, hypertelorism with agenesis of corpus callosum
Indian Journal of Dental Research, 2016 Agenesis of corpus callosum (ACC) can have various development abnormalities spectrum. These include delay in milestones to complex neuropsychiatric manifestations.
S M Balaji
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Clinical and Neurodevelopmental Course in a Case of EFNB1‐Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis [PDF]
Molecular Genetics & Genomic MedicineIntroduction Craniofrontonasal syndrome displays an unusual X‐linked dominant inheritance pattern due to pathogenic variants in EFNB1, which encodes a membrane‐bound ligand for the ephrin receptor.
Dominique L. Assing +7 more
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Association between hypertelorism and nonsyndromic oral clefts
Brazilian Journal of Oral Sciences, 2018 Hypertelorism is characterized by the increased distance between the orbits, measured from the most medial portion of its inner walls. It represents a signal found in sev eral craniofacial defects, and oral clefts.
Luciano Sólia Nasser +5 more
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Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report
Oman Medical Journal, 2012 The 1.4Mb tandem-duplication in the PMP22 gene at 17p11.2 usually manifests as hereditary sensorimotor polyneuropathy with foot deformity, sensorineural hearing-loss, moderate developmental delay, and gait disturbance. Hypertelorism and marked phenotypic
Josef Finsterer
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Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome [PDF]
, 2021 Teebi hypertelorism syndrome (THS; OMIM 145420) is a rare craniofacial disorder characterized by hypertelorism, prominent forehead, short nose with broad or depressed nasal root. Some cases of THS have been attributed to SPECC1L variants.
Turner, Anne +32 more
core +3 more sources