AI Article Synopsis
- Treacher Collins syndrome (TCS) is an inherited craniofacial defect, and a family study showed members with the same genetic variant display different symptoms.
- A 19-year-old pregnant woman was found to have a fetus with micrognathia, and genetic testing revealed a specific deletion inherited from the mother linked to TCS.
- The findings suggest that prenatal diagnosis of TCS shouldn't rely solely on genetic testing, but should also include detailed ultrasound examinations for better identification.
Article Abstract
Introduction: Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis, is an inherited craniofacial defect. Here, we report a TCS family in which the members carry the same variant but present with phenotypic variability.
Case Presentation: A 19-year-old healthy primigravida was revealed by ultrasound at 12 weeks of gestation to have a fetus with micrognathia. Prenatal genetic testing detected a heterozygous single-nucleotide deletion (NM_015972:c.91del, p.Q31Rfs*10) in the gene, inherited from the healthy mother. Variants of have been reported to be associated with TCS. Family studies found that a paternal healthy cousin of the mother had a similar pregnancy outcome, with a fetus of TCS and the same variant.
Discussion: Our study results pose a great challenge to prenatal diagnosis of TCS. The prenatal diagnosis cannot only rely on genetic testing. Instead, an early detailed sonographic survey will be helpful for the identification of TCS.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9421698 | PMC |
| http://dx.doi.org/10.1159/000521173 | DOI Listing |
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