Osteogenesis Imperfecta

"Osteogenesis Imperfecta" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.

Descriptor ID	D010013
MeSH Number(s)	C05.116.099.708.685 C16.320.737 C17.300.200.540
Concept/Terms	Osteogenesis Imperfecta Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Ossiums, Fragilitas Lobstein's Disease Lobstein's Disease Disease, Lobstein's Lobsteins Disease Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta with Blue Sclerae Osteogenesis Imperfecta, Type 1 Lobstein Disease Disease, Lobstein Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta Tardas

Below are MeSH descriptors whose meaning is more general than "Osteogenesis Imperfecta".

Diseases [C]
Musculoskeletal Diseases [C05]
Bone Diseases [C05.116]
Bone Diseases, Developmental [C05.116.099]
Osteochondrodysplasias [C05.116.099.708]
Osteogenesis Imperfecta [C05.116.099.708.685]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Osteogenesis Imperfecta [C16.320.737]
Skin and Connective Tissue Diseases [C17]
Connective Tissue Diseases [C17.300]
Collagen Diseases [C17.300.200]
Osteogenesis Imperfecta [C17.300.200.540]

Below are MeSH descriptors whose meaning is related to "Osteogenesis Imperfecta".

Below are MeSH descriptors whose meaning is more specific than "Osteogenesis Imperfecta".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Osteogenesis Imperfecta" by people in this website by year, and whether "Osteogenesis Imperfecta" was a major or minor topic of these publications.

Bar chart showing 55 publications over 18 distinct years, with a maximum of 7 publications in 2019

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1993	1	0	1
2000	2	0	2
2005	0	1	1
2006	3	0	3
2007	1	0	1
2008	2	0	2
2009	2	0	2
2010	1	0	1
2011	3	0	3
2012	1	0	1
2013	4	1	5
2014	6	0	6
2015	5	0	5
2016	3	0	3
2017	4	0	4
2018	6	0	6
2019	6	1	7
2020	2	0	2

Below are the most recent publications written about "Osteogenesis Imperfecta" by people in Profiles.

Marom R, Rabenhorst BM, Morello R. Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 2020 Oct; 183(4):R95-R106.

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Najirad M, Madathil SA, Rauch F, Sutton VR, Lee B, Retrouvey JM, Esfandiari S. Malocclusion traits and oral health-related quality of life in children with osteogenesis imperfecta: A cross-sectional study. J Am Dent Assoc. 2020 Jul; 151(7):480-490.e2.

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Machol K, Hadley TD, Schmidt J, Cuthbertson D, Traboulsi H, Silva RC, Citron C, Khan S, Citron K, Carter E, Brookler K, Shapiro JR, Steiner RD, Byers PH, Glorieux FH, Durigova M, Smith P, Bober MB, Sutton VR, Lee BH, Nagamani SCS, Raggio C. Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Am J Med Genet A. 2020 04; 182(4):697-704.

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Murali CN, Cuthbertson D, Slater B, Nguyen D, Turner A, Harris G, Sutton VR, Lee B, Nagamani SCS. Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta. Genet Med. 2020 03; 22(3):581-589.

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Sutton CD, Carvalho B. Supraglottic Airway Rescue After Failed Fiberoptic Intubation in a Patient With Osteogenesis Imperfecta: A Case Report. A A Pract. 2019 Jul 01; 13(1):7-9.

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Kruger KM, Caudill A, Rodriguez Celin M, Nagamani SCS, Shapiro JR, Steiner RD, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B, Rush ET, Smith PA, Harris GF. Mobility in osteogenesis imperfecta: a multicenter North American study. Genet Med. 2019 10; 21(10):2311-2318.

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Ma MS, Najirad M, Taqi D, Retrouvey JM, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Sutton VR, Rauch F, Esfandiari S. Caries prevalence and experience in individuals with osteogenesis imperfecta: A cross-sectional multicenter study. Spec Care Dentist. 2019 Mar; 39(2):214-219.

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Tosi LL, Floor MK, Dollar CM, Gillies AP, Hart TS, Cuthbertson DD, Sutton VR, Krischer JP. Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study. Orphanet J Rare Dis. 2019 01 29; 14(1):23.

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Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 03; 25(3):439-447.

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Retrouvey JM, Taqi D, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Hazboun R, Krakow D, Sutton VR. Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V. Eur J Med Genet. 2019 Dec; 62(12):103606.

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