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December 2, 2025Molecular Syndromology

Bathrocephaly and serpentine fibula as underrated features of Osteogenesis Imperfecta type I: a case report

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Authors

FNFelício de Freitas NettoRSRuy Pires de Oliveira SobrinhoTATatiana Ferreira de Almeida

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Overview

Case report reveals rare osteogenesis imperfecta type I features including osteopenia and hearing loss, suggesting a need for awareness and molecular testing.

Key Points

  • Bathrocephaly and serpentine fibula were noted in patients with osteogenesis imperfecta type I.
  • Key findings include the presence of osteopenia and bone fractures in five individuals.
  • Molecular testing confirmed heterozygous pathogenic variants in the COL1A1 gene.
  • Highlights the importance of recognizing atypical manifestations of osteogenesis imperfecta.

Cite This Study

Netto et al. (2025) studied this question.

synapsesocial.com/papers/692e3da16c9b3ab28c187bb6https://doi.org/10.1159/000549437
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Also Consider

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  1. 1Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment2014 · 816 citations
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  3. 3Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients2019 · 96 citations
  4. 4Genetic heterogeneity in osteogenesis imperfecta.1979 · 2,261 citations
  5. 5Cerebral Anomalies and Chiari Type 1 Malformation2010 · 29 citations