Saji Seba, Devi K Pavithra, Morankar Rahul, Tewari Nitesh, Mathur Vijay Prakash, Bansal Kalpana
Department of Pediatric and Preventive Dentistry, Centre for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India.
Spec Care Dentist. 2024 Mar-Apr;44(2):428-433. doi: 10.1111/scd.12878. Epub 2023 May 25.
Hajdu-Cheney syndrome (HCS) also known as Cranio-skeletal dysplasia is a rare genetic disorder of bone metabolism. It is mainly characterized by acro-osteolysis and generalized osteoporosis. The other distinctive features include a dysmorphic face, short stature, aplasia of facial sinuses, and persistent cranial sutures. Although the condition begins to manifest since birth, the characteristic features become more prominent with age. This syndrome is usually recognized by dentists due to these craniofacial abnormalities. This case report aims to highlight a case of 6-year-old girl HCS who presented with aberrant facial features, premature exfoliation of teeth, unusual mobility of teeth and atypical root resorption in primary dentition.
哈伊杜-切尼综合征（HCS），也称为颅-骨骼发育异常，是一种罕见的骨代谢遗传性疾病。它主要特征为肢端骨质溶解和全身性骨质疏松。其他显著特征包括面部畸形、身材矮小、面部鼻窦发育不全以及颅缝持续存在。尽管该病自出生起就开始显现，但特征会随着年龄增长而更加明显。由于这些颅面异常，该综合征通常由牙医识别出来。本病例报告旨在突出一名6岁患哈伊杜-切尼综合征女童的病例，该女童表现出异常面部特征、乳牙过早脱落、牙齿异常松动以及乳牙列中的非典型牙根吸收。
