青少年釉肾牙龈综合征

IF 0.4 Q4 DENTISTRY, ORAL SURGERY & MEDICINE

JOURNAL OF DENTISTRY FOR CHILDREN Pub Date : 2024-01-15

Rahul Koul, Dempsy Chengappa, Vijay Prakash Mathur, Thongam Ajitkumar Singh, Sukhbir Singh Chopra

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引用次数: 0

摘要

釉质肾龈综合征是一种罕见的临床病症，其特点是除了血钙水平正常的肾钙中毒症之外，还伴有釉质发育不全下胚型、牙龈纤维瘤病和牙齿萌出延迟。该病为常染色体隐性遗传，由位于 17q24.2 号染色体上的 FAM20A 基因突变引起。本报告旨在描述一例釉肾牙龈综合征病例，并讨论其明显特征和治疗方法。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

本刊更多论文

Enamel Renal Gingival Syndrome in an Adolescent.

Enamel renal gingival syndrome is a rare clinical condition characterized by the presence of amelogenesis imperfecta hypoplastic type, gingival fibromatosis and delayed tooth eruption, in addition to nephrocalcinosis with normal blood calcium levels. It is inherited as an autosomal recessive trait caused by mutations in the FAM20A gene located on chromosome 17q24.2. The purpose of this report is to describe a case of enamel renal gingival syndrome and discuss its distinct features and management.

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来源期刊

JOURNAL OF DENTISTRY FOR CHILDREN DENTISTRY, ORAL SURGERY & MEDICINE-

CiteScore

1.00

自引率

0.00%

发文量

期刊介绍： Acquired after the merger between the American Society of Dentistry for Children and the American Academy of Pediatric Dentistry in 2002, the Journal of Dentistry for Children (JDC) is an internationally renowned journal whose publishing dates back to 1934. Published three times a year, JDC promotes the practice, education and research specifically related to the specialty of pediatric dentistry. It covers a wide range of topics related to the clinical care of children, from clinical techniques of daily importance to the practitioner, to studies on child behavior and growth and development. JDC also provides information on the physical, psychological and emotional conditions of children as they relate to and affect their dental health.