Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta

17 Jun 2021

Abstract excerpt

Intrauterine fractures are a rare clinical finding caused by abnormal early-life osteogenesis. In this case report, we reported a male infant with twenty-three intrauterine/fetal fractures resembling osteogenesis imperfecta and tested negative for COL1A1 and COL1A2 mutations. The infant’s mother had Ehlers–Danlos syndrome, hypermobility type. Whole-genome sequencing revealed that there were no pathologic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bone fractures and treatments
Share to Bone health and treatments
Share to Connective tissue disorders research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34204301
DOI: 10.3390/children8060512

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis ImperfectaPMID 34204301Read ↗

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

Osteogenesis Imperfecta Type VIII in Prenatal Screening: A Case Report Emphasizing the Importance of Early Diagnosis and Genetic CounselingSemantic proximity Read ↗

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

What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse casesSemantic 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 ↗

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.Semantic proximity Read ↗

Clinical, genetic characteristics and treatment outcomes of children and adolescents with osteogenesis imperfecta: a two-center experience.Semantic proximity Read ↗

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

Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 VariantSemantic proximity Read ↗

Feingold syndrome type 2 in a patient from China.Semantic proximity Read ↗

Molecular testing strategies in the evaluation of fetal skeletal dysplasiaSemantic proximity Read ↗

A non-lethal presentation of osteogenesis imperfecta type VIII due to homozygous mutation in P3H1 gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.