Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report
Abstract Background Hypochondroplasia (HCH) is a common nonlethal skeletal dysplasia caused by pathogenic variations in the fibroblast growth factor receptor 3 (FGFR3) gene, and HCH has similar clinical manifestations with achondroplasia (ACH), which can be screened during the fetal period by prenat...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-03-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-023-03917-2 |
| _version_ | 1797863559539982336 |
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| author | Hua Xie Yulin Chen Fei Xiong Jinrong Li Fan Yang |
| author_facet | Hua Xie Yulin Chen Fei Xiong Jinrong Li Fan Yang |
| author_sort | Hua Xie |
| collection | DOAJ |
| description | Abstract Background Hypochondroplasia (HCH) is a common nonlethal skeletal dysplasia caused by pathogenic variations in the fibroblast growth factor receptor 3 (FGFR3) gene, and HCH has similar clinical manifestations with achondroplasia (ACH), which can be screened during the fetal period by prenatal ultrasound testing and diagnosed by genetic testing. Case presentation we report the special case of a patient with obvious growth retardation and rhizomelic disproportionate short stature, accompanied by other manifestations, including an enlarged head and short hands at 1 year old. However, several multiple color ultrasound exams identified shortened limbs (< 3rd percentile), an increased biparietal diameter (> 95th percentile) and a low nasal bridge in the fetal period. Due to the high incidence rate of ACH, genetic testing for the hotspot FGFR3 gene c.1138 g > A pathogenic variations was performed immediately in the third trimester. Unfortunately, the definitive diagnosis could not be made before birth due to the negative result of hotspot gene exam. Whole exome sequencing (WES) was performed at 1 year identified FGFR3 gene c.1620C > A variations positivity, and the patient was finally diagnosed as HCH. Conclusion Our report extends the understanding of the limitations of prenatal genetic diagnostic testing, especially the hot spot pathogenic variations test should be not the only clinical diagnostic basis. Moreover, this case also emphasizes that further gene analysis for patients with significant conflict between the clinical manifestation and the prenatal genetic panel examination findings should be reconducted timely to spare the family from a delayed diagnosis or a misdiagnosis. |
| first_indexed | 2024-04-09T22:37:25Z |
| format | Article |
| id | doaj.art-b55f5b774dab4645a63430aa7e285dee |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-04-09T22:37:25Z |
| publishDate | 2023-03-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-b55f5b774dab4645a63430aa7e285dee2023-03-22T12:23:59ZengBMCBMC Pediatrics1471-24312023-03-012311610.1186/s12887-023-03917-2Failure to diagnose hypochondroplasia by prenatal diagnosis: a case reportHua Xie0Yulin Chen1Fei Xiong2Jinrong Li3Fan Yang4Department of Pediatrics, West China Second University Hospital, Sichuan UniversityDoctorate of Health Management Program, National University of Science and Technology MISISDepartment of Pediatrics, West China Second University Hospital, Sichuan UniversityDepartment of Pediatrics, West China Second University Hospital, Sichuan UniversityDepartment of Pediatrics, West China Second University Hospital, Sichuan UniversityAbstract Background Hypochondroplasia (HCH) is a common nonlethal skeletal dysplasia caused by pathogenic variations in the fibroblast growth factor receptor 3 (FGFR3) gene, and HCH has similar clinical manifestations with achondroplasia (ACH), which can be screened during the fetal period by prenatal ultrasound testing and diagnosed by genetic testing. Case presentation we report the special case of a patient with obvious growth retardation and rhizomelic disproportionate short stature, accompanied by other manifestations, including an enlarged head and short hands at 1 year old. However, several multiple color ultrasound exams identified shortened limbs (< 3rd percentile), an increased biparietal diameter (> 95th percentile) and a low nasal bridge in the fetal period. Due to the high incidence rate of ACH, genetic testing for the hotspot FGFR3 gene c.1138 g > A pathogenic variations was performed immediately in the third trimester. Unfortunately, the definitive diagnosis could not be made before birth due to the negative result of hotspot gene exam. Whole exome sequencing (WES) was performed at 1 year identified FGFR3 gene c.1620C > A variations positivity, and the patient was finally diagnosed as HCH. Conclusion Our report extends the understanding of the limitations of prenatal genetic diagnostic testing, especially the hot spot pathogenic variations test should be not the only clinical diagnostic basis. Moreover, this case also emphasizes that further gene analysis for patients with significant conflict between the clinical manifestation and the prenatal genetic panel examination findings should be reconducted timely to spare the family from a delayed diagnosis or a misdiagnosis.https://doi.org/10.1186/s12887-023-03917-2HypochondroplasiaFibroblast growth factor receptor 3Sanger sequencingCase report |
| spellingShingle | Hua Xie Yulin Chen Fei Xiong Jinrong Li Fan Yang Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report BMC Pediatrics Hypochondroplasia Fibroblast growth factor receptor 3 Sanger sequencing Case report |
| title | Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report |
| title_full | Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report |
| title_fullStr | Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report |
| title_full_unstemmed | Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report |
| title_short | Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report |
| title_sort | failure to diagnose hypochondroplasia by prenatal diagnosis a case report |
| topic | Hypochondroplasia Fibroblast growth factor receptor 3 Sanger sequencing Case report |
| url | https://doi.org/10.1186/s12887-023-03917-2 |
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