2例小儿Bainbridge-Ropers综合征的牙面表现和治疗:1例报告。

IF 1.7 4区 生物学 Q3 GENETICS & HEREDITY
Aslı Aşık, Ezgi Cansu Fırıncıoğulları, Enise Avcı Durmuşalioğlu, Dilşah Çoğulu, Tahir Atik, Aslıhan Mediha Erdinç, Ozgur Cogulu
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引用次数: 0

摘要

Bainbridge-Ropers综合征(BPRS)是一种罕见的常染色体显性遗传疾病,由位于18q12染色体上的ASXL3(附加性梳状体3)基因杂合突变引起。迄今为止,文献中仅记录了45例病例。BPRS以一系列临床特征为特征,包括进食困难、张力低下、明显的面部畸形、高弓腭和智力残疾。本病例报告旨在介绍两例诊断为BPRS的儿科患者,强调新发现的口腔-牙齿表现,并提出综合牙科治疗方案。在病例1中,一位10岁的女性患者因担心发育迟缓和脊柱畸形而来到诊所。体格检查显示三头畸形、胸后凸、斜视、多毛、双颞狭窄和双侧髋外翻。此外,患者表现出发育障碍、语言困难和轻度智力残疾。口腔检查发现高弓腭,纤维化系带,狭窄的上颌骨,和后交叉咬。在病例2中,一名6岁的女性患者出现发育迟缓、语言困难和口呼吸。体格检查结果包括三角头畸形、双颞狭窄、斜视、多毛症和弓形眉毛。口腔检查显示上颚高弓,上颌骨狭窄,咬开。对于这两种情况,都实施了预防性牙科干预措施,包括应用裂缝密封剂、氟化物清漆、饮食调节和使用拦截式正畸矫治器。被诊断患有BPRS的儿童需要通过多学科方法进行持续的医疗和牙科管理,以有效地解决该疾病复杂而多样的表现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Dentofacial Findings and Management of two Pediatric Patients With Bainbridge-Ropers Syndrome: A Case Report.

Bainbridge-Ropers Syndrome(BPRS) is a rare autosomal dominant genetic disorder resulting from heterozygous mutations in the ASXL3(Additional Sex Comb-Like 3) gene located on chromosome 18q12. To date, only 45 cases have been documented in the literature. BPRS is characterized by a range of clinical features, including feeding difficulties, hypotonia, distinctive dysmorphic facial features, high-arched palate, and intellectual disability. This case report aims to present two pediatric patients diagnosed with BPRS, emphasize newly identified oro-dental manifestations, and propose a comprehensive dental management plan. In Case #1, a 10-year-old female patient presented to the clinic with concerns of developmental delay and spinal deformity. Physical examination revealed trigonocephaly, thoracic kyphosis, strabismus, hirsutism, bitemporal narrowing, and bilateral coxa valga. Additionally, the patient exhibited failure to thrive, language difficulties, and mild intellectual disability. Oral examination identified a high-arched palate, fibrotic frenulum, narrow maxilla, and posterior crossbite. In Case #2, a 6-year-old female patient presented with developmental delay, language difficulties, and mouth breathing. Physical findings included trigonocephaly, bitemporal narrowing, strabismus, hirsutism, and arched eyebrows. Oral examination revealed a high-arched palate, narrow maxilla, and open bite. For both cases, preventive dental interventions were implemented, including the application of fissure sealants, fluoride varnishes, dietary regulation, and the use of interceptive orthodontic appliances. Children diagnosed with BPRS require ongoing medical and dental management through a multidisciplinary approach to address the complex and varied manifestations of the disorder effectively.

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来源期刊
CiteScore
3.50
自引率
5.00%
发文量
432
审稿时长
2-4 weeks
期刊介绍: The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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