Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly
This report presents the first case of a dual molecular diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly in the same patient. This case underscores the complexity of genetic diagnoses and the potential for coexistence of multiple genetic syndromes in a single patient. This case expands our understanding of the molecular basis of dual Mendelian disorders and highlights the importance of considering the possibility of dual molecular diagnoses in patients with phenotypic features that are not fully accounted for by their primary diagnosis.
Authors
- Jenny Higgs
- Emma McCarthy
- Dawn Hennigan
- Stuart Gillies
- Ekaterina Lyulcheva (ORCID: https://orcid.org/0000-0002-2472-5829)
- Eleanor Baker (ORCID: https://orcid.org/0000-0002-5406-1170)
- Daimark Bennett (ORCID: https://orcid.org/0000-0002-0014-2290)
- Christopher J. Kershaw (ORCID: https://orcid.org/0000-0001-6625-7894)
- Chris Parks
- Natalie Canham
Institutions
- University of Liverpool (GB)
- University of Manchester (GB)
- St Mary's Hospital (GB)
- Liverpool Community Health NHS Trust (GB)
- Liverpool Women's Hospital (GB)
- Alder Hey Children's NHS Foundation Trust (GB)
- St Mary's Hospital (GB)
- Liverpool Womens NHS Foundation Trust (GB)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-09-06
- DOI
- https://doi.org/10.1186/s12920-024-01999-0
- Citations
- 2
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 1.10
Funders
- Wellcome Trust
- Cancer Research UK
- National Institute for Health and Care Research
- Department of Health and Social Care
- Medical Research Council