Results 21 to 30 of about 12,560 (202)
Citation: 'hypertelorism' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10827 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
Tripathy K, Ghosh D.
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Oro-facial-digital syndrome: Unspecified type with the spontaneous fusion of cleft palate
Contemporary Clinical Dentistry, 2021 Oro-facial-digital syndrome (OFD) is a disorder with varied inheritance patterns. They deal mainly with abnormalities of the face, digits, i.e., fingers and toes, and oral cavity.
Prashant Kumar Verma, Nowneet Kumar Bhat
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Apert's syndrome: A rare craniofacial disorder
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2020 Apert's syndrome (AS) which is a rare congenital disorder is a form of acrocephalosyndactyly. This syndrome is characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet.
Prajakta C Khelkar +3 more
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Frontiers in Genetics, 2023 Craniofrontonasal Syndrome is a very rare dominant X-linked genetic disorder characterized by symptoms such as hypertelorism, craniosynostosis, eye alterations, bifid nose tip, and longitudinal ridging and splitting of nails.
Harry Pachajoa +4 more
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Orbital box osteotomy in frontonasal dysplasia with severe hypertelorism: Our first experience
Journal of Cleft Lip Palate and Craniofacial Anomalies, 2023 Frontonasal dysplasia (FND) is a rare craniofacial deformity, including severe hypertelorism. We herein presented the case of a 6-year-old female patient with FND and Grade III hypertelorism who underwent a four-wall-orbital box osteotomy with a ...
I Made Suka Adnyana +2 more
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Disruption of SPECC1L translation initiation by intragenic deletion: novel pathogenic mechanism in Teebi-hypertelorism syndrome. [PDF]
NPJ Genom MedMissense and loss of function variants in SPECC1L are associated with Teebi Hypertelorism Syndrome 1 (TBHS1). Here, we report a novel SPECC1L intragenic deletion encompassing exon 3, which contains the canonical translation start site, in two related ...
Babai A +5 more
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Craniofrontonasal dysplasia: A case report
Pediatric Discovery, 2023 Craniofrontonasal dysplasia (CFND) is a rare congenital malformation, which has a wide array of symptoms that can vary drastically between patients. These include coronal synostosis with associated brachycephaly, hypertelorism, cleft lip and palate, and ...
Kanad Ghosh +4 more
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Joubert Syndrome with a Rare Finding of Pathological Mandibular Angle Fracture [PDF]
Journal of Krishna Institute of Medical Sciences University, 2021 Joubert Syndrome (JS) is a rare congenital condition first reported by French Neurologist Marie Joubert in 1969 which shows multi-organ manifestations including developmental, neurological, renal, hepatic, ocular and orofacial abnormalities.
Vathsala Patil +5 more
doaj
3D visualization and simulation in surgical planning of orbital hypertelorism
, 2022 Background: simulation and three-dimensional visualization of object motion is a prerequisite for any surgical planning system. Orbital hypertelorism is a disease, which is most commonly associated with craniofacial malformations.
Waleed Ahmed Moustafa +7 more
core +1 more source
The Gorlin-Goltz Syndrome: diagnosis of a case associated with heart disease and type 2 diabetes mellitus [PDF]
Revista Brasileira de Cirurgia Plástica, 2016 The Gorlin-Goltz syndrome (GGS) is a hereditary, autosomal dominant condition, with high penetrance and variable expressivity, resulting from mutations in the genes PTCH1, PTCH2, or SUFU.
João Paulo Nunes Drumond +3 more
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