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哈茨菲尔德综合征中的孤立性上颌中切牙：一例报告

Solitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report.

作者信息

Reis Patricia Mp, Faber Jorge, Rosa Jéssica So, Bueno Mike, Barriviera Maurício, Lia Érica N

机构信息

School of Health Sciences, University of Brasília, Brasília, Brazil.

Department of Imaging and Radiology, Faculdade São Leopoldo Mandic (SLMANDIC), Brasília, Distrito Federal, Brazil.

出版信息

Int J Clin Pediatr Dent. 2023 Jan-Feb;16(1):147-152. doi: 10.5005/jp-journals-10005-2498.

DOI:10.5005/jp-journals-10005-2498
PMID:37020764
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10067985/
Abstract

UNLABELLED

Hartsfield syndrome is a rare and unique clinical combination of ectrodactyly and holoprosencephaly (HPE) with or without cleft lip and palate, as well as various additional characteristics. Although several genes responsible for HPE and ectrodactyly have been identified, the genetic origin of Hartsfield syndrome remains unknown, as there are few reports in the literature. The objective of this case report is to present dentofacial abnormalities in an 11-year-old boy with Hartsfield syndrome, who presented mental retardation, hearing loss, bilateral hand and foot ectrodactyly, HPE, and solitary median maxillary central incisor (SMMCI) besides 12 dental ageneses.

HOW TO CITE THIS ARTICLE

P Reis PM, Faber J, O Rosa JS, Solitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report. Int J Clin Pediatr Dent 2023;16(1):147-152.

摘要

未标注

哈茨菲尔德综合征是一种罕见且独特的临床综合征，表现为先天性缺指（趾）畸形与前脑无裂畸形（HPE）的联合，可伴有或不伴有唇腭裂，以及各种其他特征。尽管已经确定了几种导致HPE和先天性缺指（趾）畸形的基因，但由于文献报道较少，哈茨菲尔德综合征的遗传起源仍然未知。本病例报告的目的是介绍一名患有哈茨菲尔德综合征的11岁男孩的牙颌面异常情况，该男孩除了12颗牙齿缺失外，还存在智力障碍、听力损失、双侧手足先天性缺指（趾）畸形、HPE和上颌中切牙正中孤立（SMMCI）。

如何引用本文

P Reis PM, Faber J, O Rosa JS, 哈茨菲尔德综合征中的上颌中切牙正中孤立：一例报告。《国际临床儿科牙科学杂志》2023；16(1):147 - 152。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c28/10067985/cff1f79b4865/ijcpd-16-147-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c28/10067985/c3120d165a89/ijcpd-16-147-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c28/10067985/e894cc17a38c/ijcpd-16-147-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c28/10067985/5d22ad12dee4/ijcpd-16-147-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c28/10067985/cff1f79b4865/ijcpd-16-147-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c28/10067985/c3120d165a89/ijcpd-16-147-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c28/10067985/e894cc17a38c/ijcpd-16-147-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c28/10067985/5d22ad12dee4/ijcpd-16-147-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c28/10067985/cff1f79b4865/ijcpd-16-147-g004.jpg

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Solitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report.哈茨菲尔德综合征中的孤立性上颌中切牙：一例报告
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本文引用的文献

1
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.一种新型显性负性 FGFR1 变异导致 Hartsfield 综合征，其机制是通过失调 RAS/ERK1/2 通路。
Eur J Hum Genet. 2019 Jul;27(7):1113-1120. doi: 10.1038/s41431-019-0350-4. Epub 2019 Feb 20.
2
Experiences of daily life and oral rehabilitation in oligodontia - a qualitative study.少牙症患者的日常生活与口腔修复体验——一项定性研究
Acta Odontol Scand. 2019 Apr;77(3):197-204. doi: 10.1080/00016357.2018.1535137. Epub 2019 Jan 16.
3
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.
利用变异图谱探索FGFR1的特定结构域突变
J Dent Res. 2017 Oct;96(11):1339-1345. doi: 10.1177/0022034517726496. Epub 2017 Aug 21.
4
Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature.哈特斯菲尔德综合征的耳鼻咽喉科表现：病例系列及文献综述
Int J Pediatr Otorhinolaryngol. 2017 Jul;98:4-8. doi: 10.1016/j.ijporl.2017.04.035. Epub 2017 Apr 24.
5
Hypodontia: An Update on Its Etiology, Classification, and Clinical Management.恒牙先天缺失：病因、分类及临床管理的最新进展
Biomed Res Int. 2017;2017:9378325. doi: 10.1155/2017/9378325. Epub 2017 Mar 19.
6
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.FGFR1 中的显性负性激酶结构域突变可解释哈茨菲尔德综合征的临床严重程度。
Hum Mol Genet. 2016 May 15;25(10):1912-1922. doi: 10.1093/hmg/ddw064. Epub 2016 Feb 29.
7
Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.6例孤立性上颌中切牙综合征患者的基因型和表型变异
Am J Med Genet A. 2015 Oct;167A(10):2451-8. doi: 10.1002/ajmg.a.37207. Epub 2015 Jun 16.
8
[Solitary median maxillary central incisor syndrome].[孤立性上颌中切牙正中综合征]
Ned Tijdschr Tandheelkd. 2014 Sep;121(9):435-42.
9
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.两例患有哈特斯菲尔德综合征的同胞兄妹中发现新的FGFR1基因杂合突变：一例性腺嵌合体病例
Am J Med Genet A. 2014 Sep;164A(9):2356-9. doi: 10.1002/ajmg.a.36621. Epub 2014 May 28.
10
Identification of genetic risk factors for maxillary lateral incisor agenesis.上颌侧切牙缺失的遗传风险因素鉴定。
J Dent Res. 2014 May;93(5):452-8. doi: 10.1177/0022034514523986. Epub 2014 Feb 19.