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Orthodontic findings and treatment need in patients with amelogenesis imperfecta: a descriptive analysis
Introduction: Amelogenesis imperfecta (AI) is a genetically determined, non-syndromic enamel dysplasia that may manifest as hypoplasia,...
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Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine
BackgroundShort stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is a rare, autosomal recessive, skeletal disorder first...
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Management guidelines for amelogenesis imperfecta: a case report and review of the literature
BackgroundRehabilitation of the entire dentition with amelogenesis imperfecta (AI) tends to pose a great challenge to the clinician. Most of the...
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Restorative treatment in a case of amelogenesis imperfecta and 9-year follow-up: a case report
BackgroundAmelogenesis imperfecta is a hereditary malformation showing various manifestations regarding enamel dysplasia. This case report shows a...
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Misdiagnosed metabolic bone abnormality: a case report
BackgroundMetabolic bone disease causes significant morbidity and mortality, especially when misdiagnosed. With genetic testing, multiple disease...
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Molecular characterization of the Yp11.2 region deletion in the Chinese Han population
The Y chromosome is male-specific and is important for spermatogenesis and male fertility. However, the Y chromosome is poorly characterized due to...
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Skeletal open bite with amelogenesis imperfecta treated with compression osteogenesis: a case report
BackgroundWe successfully treated a 37-year-old male who had skeletal open bite with severe amelogenesis imperfecta (AI) with orthodontics,...
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Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series
Peroxisome biogenesis disorders—Zellweger spectrum disorders (PBD-ZSD)—are primarily autosomal recessive disorders caused by mutations in any of 13 PEX ...
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Orale Problembefunde
Besides early childhood caries, which affects ca. 600 million children, there are other oral findings that necessitate presentation of the child to a...
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JAGN1 mutation with distinct clinical features; two case reports and literature review
Jagunal homolog 1 (JAGN1) has been recognized as an essential protein in neutrophil function. The mutated JAGN1 is responsible for immunodeficiency...
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Phenotypic variability in distal acidification defects associated with WDR72 mutations
BackgroundDistal renal tubular acidosis (RTA) is typically caused by defects in ATP6V0A4 , ATP6V1B1 , and SLC4A1 , accounting for 60–80% of patients . ...
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Raine’s syndrome: rare disease from neurosurgical perspective
Raine’s syndrome (RS) is a rare genetic disorder. Only 25 cases are in literature. Occurs due to genetic mutation resulting in deranged bone...
