III型普费弗综合征的产前早期诊断：病例描述 - Suppr

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An early prenatal diagnosis of type III Pfeiffer syndrome: a case description.

作者信息

Tie Hong-Xia, Li Tian-Gang, Xu Fu-Rong, Wu Wen-Rui, Ma Bin

机构信息

Ultrasound Medicine Center, Gansu Provincial Maternity and Child-care Hospital, Lanzhou, China.

Medical Genetic Center, Gansu Provincial Maternity and Child-care Hospital, Lanzhou, China.

出版信息

Quant Imaging Med Surg. 2024 Dec 5;14(12):9835-9840. doi: 10.21037/qims-24-440. Epub 2024 Jul 9.

DOI:10.21037/qims-24-440

PMID:39698725

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11651975/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f1b/11651975/e351422d5209/qims-14-12-9835-f1.jpg

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Severe Cloverleaf Skull Deformity in c.1061C>G (p.Ser354Cys) Mutated Fibroblast Growth Factor Receptor 2 Gene in Crouzon Syndrome.

J Craniofac Surg. 2021;32(1):261-264. doi: 10.1097/SCS.0000000000006999.

Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology.

Childs Nerv Syst. 2019 Sep;35(9):1451-1455. doi: 10.1007/s00381-019-04244-7. Epub 2019 Jun 21.

Saethre-Chotzen syndrome: Case report and literature review.

Dent Med Probl. 2018 Apr-Jun;55(2):217-225. doi: 10.17219/dmp/91050.

Rab23 and developmental disorders.

Rev Neurosci. 2018 Nov 27;29(8):849-860. doi: 10.1515/revneuro-2017-0110.

Minor Suture Fusion in Syndromic Craniosynostosis.

Plast Reconstr Surg. 2017 Sep;140(3):434e-445e. doi: 10.1097/PRS.0000000000003586.

Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.

J Matern Fetal Neonatal Med. 2017 Sep;30(18):2225-2231. doi: 10.1080/14767058.2016.1243099. Epub 2016 Oct 20.

Central nervous system and cervical spine abnormalities in Apert syndrome.

Childs Nerv Syst. 2016 May;32(5):833-8. doi: 10.1007/s00381-016-3036-z. Epub 2016 Feb 10.

Altered FGF signalling in congenital craniofacial and skeletal disorders.

Semin Cell Dev Biol. 2016 May;53:115-25. doi: 10.1016/j.semcdb.2015.12.005. Epub 2015 Dec 11.

Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.

Med Oral Patol Oral Cir Bucal. 2015 Jan 1;20(1):e52-8. doi: 10.4317/medoral.20032.

Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.

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Ultrasound Obstet Gynecol. 1996 Dec;8(6):425-8. doi: 10.1046/j.1469-0705.1997.08060425.x.

Pfeiffer Syndrome type 2--case report.

Sao Paulo Med J. 2003 Jul 1;121(4):176-9. doi: 10.1590/s1516-31802003000400008. Epub 2003 Oct 29.

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Am J Med Genet. 1998 Jul 24;78(4):356-60. doi: 10.1002/(sici)1096-8628(19980724)78:4<356::aid-ajmg10>3.0.co;2-h.

Taiwan J Obstet Gynecol. 2024 May;63(3):387-390. doi: 10.1016/j.tjog.2024.03.005.

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本文引用的文献

Severe Cloverleaf Skull Deformity in c.1061C>G (p.Ser354Cys) Mutated Fibroblast Growth Factor Receptor 2 Gene in Crouzon Syndrome.

J Craniofac Surg. 2021;32(1):261-264. doi: 10.1097/SCS.0000000000006999.

Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology.

Childs Nerv Syst. 2019 Sep;35(9):1451-1455. doi: 10.1007/s00381-019-04244-7. Epub 2019 Jun 21.

Saethre-Chotzen syndrome: Case report and literature review.

Dent Med Probl. 2018 Apr-Jun;55(2):217-225. doi: 10.17219/dmp/91050.

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Rev Neurosci. 2018 Nov 27;29(8):849-860. doi: 10.1515/revneuro-2017-0110.

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Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.

Med Oral Patol Oral Cir Bucal. 2015 Jan 1;20(1):e52-8. doi: 10.4317/medoral.20032.

Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.

Am J Med Genet A. 2012 Oct;158A(10):2506-10. doi: 10.1002/ajmg.a.35590. Epub 2012 Sep 10.