Results 71 to 80 of about 14,453 (188)
Brittle teeth with brittle bone in a family for four generations: Case report and literature review
Contemporary Clinical Dentistry, 2012 Dentinogenesis imperfect (DI) is a hereditary dentine disorder affecting both deciduous and permanent teeth. DI is caused by mutations in genes encoding for type I collagen leading to discoloration of teeth.
P S Shilpa +4 more
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Genes and Diseases, 2019 Osteogenesis imperfecta (OI) is mainly characterized by bone fragility and Ehlers-Danlos syndrome (EDS) by connective tissue defects. Mutations in COL1A1 or COL1A2 can lead to both syndromes.
Thunyaporn Budsamongkol +5 more
doaj +1 more source
Expanding the Clinical Spectrum of Bruck Syndrome: A Case Report and Literature Review
Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.Background Bruck syndrome is a rare autosomal recessive disorder characterized by osteogenesis imperfecta–like bone fragility and congenital joint contractures. Clinical overlap with other connective tissue disorders makes early diagnosis challenging, and genetic testing remains essential.
Ansam Nafah +5 more
wiley +1 more source
Mutations in
BMC Medical Genetics, 2011 Background Mutations in the FKBP10 gene were first described in patients with Osteogenesis imperfecta type III. Two follow up reports found FKBP10 mutations to be associated with Bruck syndrome type 1, a rare disorder characterized by congenital ...
Steinlein Ortrud K +3 more
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A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta
Human Mutation, Volume 2026, Issue 1, 2026.Background Osteogenesis imperfecta (OI) is a clinical and genetic disorder characterised by bone fragility, growth deficiency and skeletal deformity. Ninety per cent of OI cases are attributable to autosomal dominant variants in the COL1A1 and COL1A2 genes.
Yujun Zhang +7 more
wiley +1 more source
Dentinogenesis Imperfecta: Relationship of Genotype with Clinical and Radiographic Features [PDF]
, 2010 Dentinogenesis Imperfecta (DGI) is the most common hereditary anomaly of human dentin. It is typically diagnosed by clinical and radiographic features. It occurs in isolation or in conjunction with the syndrome osteogenesis imperfecta.
Shahangian, Seyed Jossein
core +1 more source
Swellings over the Limbs as the Earliest Feature in a Patient with Osteogenesis Imperfecta Type V
Case Reports in Orthopedics, 2014 Swellings over the upper and lower limbs were encountered in a one-year-old child. Skeletal survey showed a constellation of distinctive radiographic abnormalities of osteoporosis, hyperplastic callus and ossification of the interosseous membrane of the ...
Ali Al Kaissi +3 more
doaj +1 more source
Human Mutation, Volume 2026, Issue 1, 2026.Purpose This study interrogates longitudinal natural history data to determine whether hearing loss (HL) incidence, onset, degree, and type in osteogenesis imperfecta (OI) caused by heterozygous collagen missense variants are associated with a specific gene or combinations of causal gene and OI type.
Julie A. Christensen +13 more
wiley +1 more source
Osteogenesis imperfecta and dentinogenesis imperfecta: associated disorders
, 2015 This paper presents a review of dentinogenesis imperfecta occurring in patients with osteogenesis imperfecta. The systemic manifestations and the oral aspects of dentinogenesis imperfecta in osteogenesis imperfecta are discussed, and an illustrative case
Tenuta, L. M. A. +3 more
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Dentinogénesis imperfecta tipo II: Reporte de un caso
Revista de Odontopediatria Latinoamericana, 2013 La Dentinogénesis Imperfecta es un desorden genético de carácter hereditario autosómico dominante, que se caracteriza por defectos en la dentina de ambas denticiones.
Magdalena-San Martín +3 more
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