Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2
Abstract Background Crouzon syndrome is a rare and complex autosomal dominant craniosynostosis syndrome with a prevalence of approximately 1 in 60,000 births. The typical features are craniosynostosis, proptosis, midfacial hypoplasia, and noncranial manifestations, including deformities in the cervi...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-09-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.843 |
| _version_ | 1818024890014367744 |
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| author | Meina Lin Yongping Lu Yu Sui Ning Zhao Ying Jin Dongxu Yi Miao Jiang |
| author_facet | Meina Lin Yongping Lu Yu Sui Ning Zhao Ying Jin Dongxu Yi Miao Jiang |
| author_sort | Meina Lin |
| collection | DOAJ |
| description | Abstract Background Crouzon syndrome is a rare and complex autosomal dominant craniosynostosis syndrome with a prevalence of approximately 1 in 60,000 births. The typical features are craniosynostosis, proptosis, midfacial hypoplasia, and noncranial manifestations, including deformities in the cervical spine, elbow, and fingers. Crouzon syndrome is usually caused by pathogenic variants in the fibroblast growth factor receptor 2 (FGFR2) gene. Methods We reported a three‐generation family with Crouzon syndrome; the proband showed extremely severe limb abnormalities. The clinical features were obtained by physical examination and radiographic examination. Sanger sequencing of all 18 exons of FGFR2 was conducted to identify the disease‐causing mutation. Results The proband was a 44‐year‐old man who showed characteristics of Crouzon syndrome, including craniofacial dysostosis, shallow orbits, proptosis, midface hypoplasia, beaked nose, strabismus, short superior lip, short stature, and neck injection. In addition to these typical characteristics, radiographic examination showed severe scoliosis, heterotopic ossification of the elbows, knee osteoarthritis, metacarpophalangeal joint valgus, collapse of the articular surface of the thumb metacarpal, knuckle ossification and fusion. Sanger sequencing identified a heterozygous pathogenic variant c.799T>C, p.(Ser267Pro) in exon 7 of FGFR2 in affected individuals. Conclusion Crouzon syndrome in this three‐generation family was caused by c.799T>C FGFR2, and the patient showed a different phenotypic appearance from other Crouzon patients with c.799T>C FGFR2. |
| first_indexed | 2024-12-10T04:07:24Z |
| format | Article |
| id | doaj.art-f10e4702fe564b83a996ed255b7c154b |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-12-10T04:07:24Z |
| publishDate | 2019-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-f10e4702fe564b83a996ed255b7c154b2022-12-22T02:02:49ZengWileyMolecular Genetics & Genomic Medicine2324-92692019-09-0179n/an/a10.1002/mgg3.843Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2Meina Lin0Yongping Lu1Yu Sui2Ning Zhao3Ying Jin4Dongxu Yi5Miao Jiang6Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning China Medical University Huanggu District, Shenyang ChinaKey Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning China Medical University Huanggu District, Shenyang ChinaKey Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning China Medical University Huanggu District, Shenyang ChinaKey Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning China Medical University Huanggu District, Shenyang ChinaKey Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning China Medical University Huanggu District, Shenyang ChinaKey Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning China Medical University Huanggu District, Shenyang ChinaKey Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning China Medical University Huanggu District, Shenyang ChinaAbstract Background Crouzon syndrome is a rare and complex autosomal dominant craniosynostosis syndrome with a prevalence of approximately 1 in 60,000 births. The typical features are craniosynostosis, proptosis, midfacial hypoplasia, and noncranial manifestations, including deformities in the cervical spine, elbow, and fingers. Crouzon syndrome is usually caused by pathogenic variants in the fibroblast growth factor receptor 2 (FGFR2) gene. Methods We reported a three‐generation family with Crouzon syndrome; the proband showed extremely severe limb abnormalities. The clinical features were obtained by physical examination and radiographic examination. Sanger sequencing of all 18 exons of FGFR2 was conducted to identify the disease‐causing mutation. Results The proband was a 44‐year‐old man who showed characteristics of Crouzon syndrome, including craniofacial dysostosis, shallow orbits, proptosis, midface hypoplasia, beaked nose, strabismus, short superior lip, short stature, and neck injection. In addition to these typical characteristics, radiographic examination showed severe scoliosis, heterotopic ossification of the elbows, knee osteoarthritis, metacarpophalangeal joint valgus, collapse of the articular surface of the thumb metacarpal, knuckle ossification and fusion. Sanger sequencing identified a heterozygous pathogenic variant c.799T>C, p.(Ser267Pro) in exon 7 of FGFR2 in affected individuals. Conclusion Crouzon syndrome in this three‐generation family was caused by c.799T>C FGFR2, and the patient showed a different phenotypic appearance from other Crouzon patients with c.799T>C FGFR2.https://doi.org/10.1002/mgg3.843c.799T > C FGFR2Crouzon syndromeheterotopic ossificationosteoarthritissevere scoliosis |
| spellingShingle | Meina Lin Yongping Lu Yu Sui Ning Zhao Ying Jin Dongxu Yi Miao Jiang Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2 Molecular Genetics & Genomic Medicine c.799T > C FGFR2 Crouzon syndrome heterotopic ossification osteoarthritis severe scoliosis |
| title | Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2 |
| title_full | Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2 |
| title_fullStr | Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2 |
| title_full_unstemmed | Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2 |
| title_short | Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2 |
| title_sort | extremely severe scoliosis heterotopic ossification and osteoarthritis in a three generation family with crouzon syndrome carrying a mutant c 799t c fgfr2 |
| topic | c.799T > C FGFR2 Crouzon syndrome heterotopic ossification osteoarthritis severe scoliosis |
| url | https://doi.org/10.1002/mgg3.843 |
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