Article

Osteogenesis Imperfecta Type VIII in Prenatal Screening: A Case Report Emphasizing the Importance of Early Diagnosis and Genetic Counseling

2025-07-25

Abstract excerpt

<title>Abstract</title> <p>Skeletal dysplasia represents a set of birth defects which disrupts bone and cartilage growth that occurs because of genetic variations. The genetic disorder Osteogenesis Imperfecta (OI) type VIII develops because of recessive P3H1 gene variants which create impaired collagen production and produces severe bone brittleness. This report describes a 35-year-old woman who is pregnant for t...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 3e9a239b-b1d5-59b9-94e7-883819e82651
DOI: 10.21203/rs.3.rs-6718302/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Osteogenesis Imperfecta Type VIII in Prenatal Screening: A Case Report Emphasizing the Importance of Early Diagnosis and Genetic CounselingDOI 10.21203/rs.3.rs-6718302/v1Read

Current Overview of Osteogenesis Imperfecta.Semantic proximity Read

[Comprehensive considerations for the diagnosis, treatment, and management of osteogenesis imperfecta].Semantic proximity Read

Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.Semantic proximity Read

Clinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV.Semantic proximity Read

Severe cases of osteogenesis imperfecta type VIII due to a homozygous mutation in P3H1 (LEPRE1) and review of the literature.Semantic proximity Read

Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta.Semantic proximity Read

Prenatal diagnosis of bone dysplasiasSemantic proximity Read

Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2Semantic proximity Read

Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII.Semantic proximity Read

Reproductive options for families at risk of Osteogenesis Imperfecta: a reviewSemantic proximity Read

Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2.Semantic proximity Read

Osteogenesis imperfecta type VIII: highlighting the need for genetic testing.Semantic proximity Read