An unusual presentation of osteogenesis imperfecta type I

Rebelo, Marta; Lima, Jandira; Vieira, Joana; Costa, Nascimento

doi:10.2147/imcrj.s17929

Cited by 5 publications

(3 citation statements)

References 18 publications

(30 reference statements)

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“…In approximately 10% of individuals with mild OI, fractures (the main symptom of OI) may be absent [117]. The rarity of the OI disorder, in combination with a mild or asymptomatic phenotype, may increase the likelihood of it remaining undiagnosed, especially for mosaic individuals [118][119][120]. The inclusion of the COL1A1 and COL1A2 genes as well as AR genes in a PCS panel may help to prevent the transmission of a heterozygous variant from asymptomatic or mosaic parents to their offspring.…”

Section: Family Planning For People Without Osteogenesis Imperfectamentioning

confidence: 99%

Reproductive options for families at risk of Osteogenesis Imperfecta: a review

Zhytnik

Simm

Salumets

et al. 2020

Orphanet J Rare Dis

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Background Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder is characterised by genetic and clinical heterogeneity. Pathogenic variants in more than 20 different genes can lead to OI, and phenotypes can range from mild to lethal forms. As a genetic disorder which undoubtedly affects quality of life, OI significantly alters the reproductive confidence of families at risk. The current review describes a selection of the latest reproductive approaches which may be suitable for prospective parents faced with a risk of OI. The aim of the review is to alleviate suffering in relation to family planning around OI, by enabling prospective parents to make informed and independent decisions. Main body The current review provides a comprehensive overview of possible reproductive options for people with OI and for unaffected carriers of OI pathogenic genetic variants. The review considers reproductive options across all phases of family planning, including pre-pregnancy, fertilisation, pregnancy, and post-pregnancy. Special attention is given to the more modern techniques of assisted reproduction, such as preconception carrier screening, preimplantation genetic testing for monogenic diseases and non-invasive prenatal testing. The review outlines the methodologies of the different reproductive approaches available to OI families and highlights their advantages and disadvantages. These are presented as a decision tree, which takes into account the autosomal dominant and autosomal recessive nature of the OI variants, and the OI-related risks of people without OI. The complex process of decision-making around OI reproductive options is also discussed from an ethical perspective. Conclusion The rapid development of molecular techniques has led to the availability of a wide variety of reproductive options for prospective parents faced with a risk of OI. However, such options may raise ethical concerns in terms of methodologies, choice management and good clinical practice in reproductive care, which are yet to be fully addressed.

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Section: Family Planning For People Without Osteogenesis Imperfectamentioning

confidence: 99%

Reproductive options for families at risk of Osteogenesis Imperfecta: a review

Zhytnik

Simm

Salumets

et al. 2020

Orphanet J Rare Dis

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show abstract

“…There is an extremely low incidence of OI, approximately one in every 20.000 births [ 2 ]. This heritable connective tissue disorder is characterized by low bone mass and increased fracture likelihood [ 3 ].…”

Section: Introduction and Importancementioning

confidence: 99%

Acetabular fracture and central hip dislocation in osteogenesis imperfecta child treated surgically with bone grafts augmented by recombinant human bone morphogenetic protein-2: A rare case report

Soetjahjo

Adriansyah

Fauzan

et al. 2023

International Journal of Surgery Case Reports

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“…Multiple skeletal complaints are reported by patients with osteogenesis imperfecta and low back pain is a common symptom (7). Recent developments have shown that for effective management of osteogenesis imperfecta, there should be a multidisciplinary approach involving, more importantly, physiotherapy, rehabilitation and orthopaedic surgery in addition to a myriad of other disciplines, depending on which system is involved (8).…”

Section: Introductionmentioning

confidence: 99%