Jaziri Rawia, Zaghden Olfa, Ghadhab Nawres, Kammoun Rym, Chaabani Imen, Ben Alaya Touhami
Department of medical imaging, University Dental Clinic, Monastir, Tunisia.
Research laboratory of Bioactive Natural Substances and Biotechnology, Faculty of Dental Medicine, University of Monastir, Monastir, Tunisia LR24ES14.
Radiol Case Rep. 2024 Sep 6;19(12):5553-5558. doi: 10.1016/j.radcr.2024.08.005. eCollection 2024 Dec.
Mandibulo-acral dysplasia was first described by Young et al in 1971. It is a rare, autosomal genetic disorder describing characteristic general, craniofacial, and oral manifestations. However, the detailed characteristics of this multisystemic disease have not yet been clarified due to its rarity and the limited number of cases described. Through a clinical case, we have tried to expose some of the most common clinical and radiological signs especially in their bucco-facial location, some modalities of management and the importance of an early diagnosis which turns out to be a real challenge especially for dentists in their daily practice.
下颌-肢端发育异常最早由杨等人于1971年描述。它是一种罕见的常染色体遗传病，具有特征性的全身、颅面和口腔表现。然而，由于其罕见性以及所描述病例数量有限，这种多系统疾病的详细特征尚未阐明。通过一个临床病例，我们试图揭示一些最常见的临床和放射学体征，尤其是在颊面部的表现、一些治疗方式以及早期诊断的重要性，而早期诊断对牙医在日常实践中来说是一项真正的挑战。
