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Osteogenesis imperfecta, type 23

MedGen UID:
1051363
•Concept ID:
CN375836
•
Disease or Syndrome
Synonym: Osteogenesis imperfecta, type XXIII
 
Gene (location): PHLDB1 (11q23.3)
 
Monarch Initiative: MONDO:0957988
OMIM®: 620639

Definition

Osteogenesis imperfecta type XXIII (OI23) is a mild recessive form of OI, characterized by osteopenia with or without recurrent fractures, platyspondyly, short and bowed long bones, and widened metaphyses. Metaphyseal and vertebral changes regress after early childhood; osteopenia persists, but responds well to bisphosphonate (Tuysuz et al., 2023). [from OMIM]

Professional guidelines

PubMed

Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.
Han J, Yang YD, He Y, Liu WJ, Zhen L, Pan M, Yang X, Zhang VW, Liao C, Li DZ
Prenat Diagn 2020 Apr;40(5):577-584. Epub 2020 Feb 10 doi: 10.1002/pd.5653. PMID: 31994750
Multidisciplinary Treatment of Severe Osteogenesis Imperfecta: Functional Outcomes at Skeletal Maturity.
Montpetit K, Palomo T, Glorieux FH, Fassier F, Rauch F
Arch Phys Med Rehabil 2015 Oct;96(10):1834-9. Epub 2015 Jul 2 doi: 10.1016/j.apmr.2015.06.006. PMID: 26140741
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
Lindahl K, Åström E, Rubin CJ, Grigelioniene G, Malmgren B, Ljunggren Ö, Kindmark A
Eur J Hum Genet 2015 Aug;23(8):1042-50. Epub 2015 May 6 doi: 10.1038/ejhg.2015.81. PMID: 25944380Free PMC Article

Recent clinical studies

Etiology

Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients.
Chen P, Zhou Y, Tan Z, Lin Y, Lin DL, Wu J, Li Z, Shek HT, Wu J, Hu Y, Zhu F, Chan D, Cheung KM, To MK
Orphanet J Rare Dis 2023 Sep 20;18(1):295. doi: 10.1186/s13023-023-02906-z. PMID: 37730650Free PMC Article
Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
Takeda R, Yamaguchi T, Hayashi S, Sano S, Kawame H, Kanki S, Taketani T, Yoshimura H, Nakamura Y, Kosho T
Am J Med Genet A 2022 Sep;188(9):2560-2575. Epub 2022 Jul 13 doi: 10.1002/ajmg.a.62887. PMID: 35822426Free PMC Article
Fatigue in adults with Osteogenesis Imperfecta.
Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM
BMC Musculoskelet Disord 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. PMID: 31900144Free PMC Article
Mortality and morbidity in patients with osteogenesis imperfecta in Denmark.
Folkestad L
Dan Med J 2018 Apr;65(4) PMID: 29619932
Radiology of Osteogenesis Imperfecta, Rickets and Other Bony Fragility States.
Calder AD
Endocr Dev 2015;28:56-71. Epub 2015 Jun 12 doi: 10.1159/000380992. PMID: 26138835

Diagnosis

Fatigue in adults with Osteogenesis Imperfecta.
Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM
BMC Musculoskelet Disord 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. PMID: 31900144Free PMC Article
Mortality and morbidity in patients with osteogenesis imperfecta in Denmark.
Folkestad L
Dan Med J 2018 Apr;65(4) PMID: 29619932
Radiology of Osteogenesis Imperfecta, Rickets and Other Bony Fragility States.
Calder AD
Endocr Dev 2015;28:56-71. Epub 2015 Jun 12 doi: 10.1159/000380992. PMID: 26138835
Osteogenesis imperfecta and its molecular diagnosis by determination of mutations of type I collagen genes.
Tedeschi E, Antoniazzi F, Venturi G, Zamboni G, Tatò L
Pediatr Endocrinol Rev 2006 Sep;4(1):40-6. PMID: 17021582
Insufficiency stress fractures.
Cooper KL
Curr Probl Diagn Radiol 1994 Mar-Apr;23(2):29-68. doi: 10.1016/0363-0188(94)90006-x. PMID: 8174391

Therapy

Bone allografting: an original method for biological osteosynthesis and bone reinforcement in children with osteogenesis imperfecta.
Gaume M, El Yahiaouni S, De Tienda M, Baujat G, Cormier-Daire V, Dumaine V, Pannier S, Finidori G, Pejin Z
Int Orthop 2023 Jul;47(7):1863-1869. Epub 2023 May 12 doi: 10.1007/s00264-023-05818-6. PMID: 37171515
Pamidronate Therapy Increases Trabecular Bone Complexity of Mandibular Condyles in Individuals with Osteogenesis Imperfecta.
Pantoja LLQ, Lustosa M, Yamaguti PM, Rosa LS, Leite AF, Figueiredo PTS, Castro LC, Acevedo AC
Calcif Tissue Int 2022 Mar;110(3):303-312. Epub 2021 Oct 22 doi: 10.1007/s00223-021-00915-3. PMID: 34677656
Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy.
Kashii M, Kanayama S, Kitaoka T, Makino T, Kaito T, Iwasaki M, Kubota T, Yamamoto T, Ozono K, Yoshikawa H
J Bone Miner Metab 2019 May;37(3):545-553. Epub 2018 Sep 5 doi: 10.1007/s00774-018-0952-x. PMID: 30187275
Mortality and morbidity in patients with osteogenesis imperfecta in Denmark.
Folkestad L
Dan Med J 2018 Apr;65(4) PMID: 29619932
Diaphyseal Femur Fractures in Osteogenesis Imperfecta: Characteristics and Relationship With Bisphosphonate Treatment.
Trejo P, Fassier F, Glorieux FH, Rauch F
J Bone Miner Res 2017 May;32(5):1034-1039. Epub 2017 Feb 28 doi: 10.1002/jbmr.3071. PMID: 28019684

Prognosis

Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta.
Mei Y, Jiang Y, Shen L, Meng Z, Zhang Z, Zhang H
Orphanet J Rare Dis 2024 Mar 12;19(1):116. doi: 10.1186/s13023-024-03089-x. PMID: 38475860Free PMC Article
Respiratory function of children and adolescents with osteogenesis imperfecta: respiratory muscle strength, forced vital capacity, and peak expiratory flow.
Carvalho PAF, Regis TS, Faiçal AVB, Terse-Ramos R, Acosta AX
Rev Paul Pediatr 2023;41:e2022092. Epub 2023 Mar 13 doi: 10.1590/1984-0462/2023/41/2022092. PMID: 36921178Free PMC Article
Does the Skeletal Phenotype of Osteogenesis Imperfecta Differ for Patients With Non-COL1A1/2 Mutations? A Retrospective Study in 113 Patients.
Zerfu T, Yong B, Harrington J, Howard A
J Pediatr Orthop 2022 May-Jun 01;42(5):e507-e514. doi: 10.1097/BPO.0000000000002116. PMID: 35200215
Fatigue in adults with Osteogenesis Imperfecta.
Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM
BMC Musculoskelet Disord 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. PMID: 31900144Free PMC Article
Osteogenesis imperfecta and its molecular diagnosis by determination of mutations of type I collagen genes.
Tedeschi E, Antoniazzi F, Venturi G, Zamboni G, Tatò L
Pediatr Endocrinol Rev 2006 Sep;4(1):40-6. PMID: 17021582

Clinical prediction guides

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.
Madhuri V, Selina A, Loganathan L, Kumar A, Kumar V, Raymond R, Ramesh S, Vincy N, Joel G, James D, Kandagaddala M, B A
Ann Hum Genet 2021 Jan;85(1):37-46. Epub 2020 Aug 7 doi: 10.1111/ahg.12403. PMID: 32770541
Fatigue in adults with Osteogenesis Imperfecta.
Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM
BMC Musculoskelet Disord 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. PMID: 31900144Free PMC Article
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis.
Rolvien T, Stürznickel J, Schmidt FN, Butscheidt S, Schmidt T, Busse B, Mundlos S, Schinke T, Kornak U, Amling M, Oheim R
Calcif Tissue Int 2018 Nov;103(5):512-521. Epub 2018 Jun 26 doi: 10.1007/s00223-018-0447-8. PMID: 29946973
Mortality and morbidity in patients with osteogenesis imperfecta in Denmark.
Folkestad L
Dan Med J 2018 Apr;65(4) PMID: 29619932
Diaphyseal Femur Fractures in Osteogenesis Imperfecta: Characteristics and Relationship With Bisphosphonate Treatment.
Trejo P, Fassier F, Glorieux FH, Rauch F
J Bone Miner Res 2017 May;32(5):1034-1039. Epub 2017 Feb 28 doi: 10.1002/jbmr.3071. PMID: 28019684

Recent systematic reviews

Dental anomalies in individuals with osteogenesis imperfecta: a systematic review and meta-analysis of prevalence and comparative studies.
Prado HV, Soares ECB, Carneiro NCR, Vilar ICO, Abreu LG, Borges-Oliveira AC
J Appl Oral Sci 2023;31:e20230040. Epub 2023 Sep 4 doi: 10.1590/1678-7757-2023-0040. PMID: 37672427Free PMC Article

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