塞克尔侏儒症——一种罕见的常染色体隐性遗传综合征：病例报告

Seckel Dwarfism-A Rare Autosomal Recessive Inherited Syndrome: A Case Report.

作者信息

Tatiya Neeti, Kesri Rituraj, Ukey Ankita

机构信息

Department of Pedodontics and Preventive Dentistry, Saveetha Dental College, Chennai, Tamil Nadu, India.

Consultant Pedodontist, Raipur, Chhattisgarh, India.

出版信息

Int J Clin Pediatr Dent. 2024 Feb;17(2):211-215. doi: 10.5005/jp-journals-10005-2765.

DOI:10.5005/jp-journals-10005-2765

PMID:39184883

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11339487/

Abstract

UNLABELLED

Seckel syndrome, also commonly called Seckel dwarfism, is a rare congenital disorder and always associated with severe growth retardation . This retarded growth lingers on and causes serious developmental deformities ensuing to short stature, microcephaly, mental retardation, and a beak-like nose. This case report intends to present an interesting case of a 14-year-old female patient with various clinical manifestations, typical radiographic features, and characteristic dental manifestations correlated with the literature. A detailed understanding of the present case would assist pediatric dentists in correct and prompt diagnosis, precise treatment, and the prevention of severe consequences caused by Seckel syndrome.

HOW TO CITE THIS ARTICLE

Tatiya N, Kesri R, Ukey A. Seckel Dwarfism-A Rare Autosomal Recessive Inherited Syndrome: A Case Report. Int J Clin Pediatr Dent 2024;17(2):211-215.

摘要

未标注

塞克尔综合征，也常被称为塞克尔侏儒症，是一种罕见的先天性疾病，常伴有严重生长发育迟缓。这种生长发育迟缓持续存在，并导致严重的发育畸形，继而出现身材矮小、小头畸形、智力障碍和鸟嘴样鼻。本病例报告旨在呈现一名14岁女性患者的有趣病例，该患者具有各种临床表现、典型的影像学特征以及与文献相关的特征性牙齿表现。对本病例的详细了解将有助于儿科牙医进行正确、及时的诊断、精确治疗，并预防塞克尔综合征引起的严重后果。