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罕见病症的阴影下:一例综合征性唇腭裂病例报告!

In the Shadows of Rarity: A Case Report of Syndromic Cleft Lip and Palate!

作者信息

Daigavane Pallavi, Shinde Mrudula, Niranjane Priyanka, Chimote Bhagyashri

机构信息

Department of Orthodontics and Dentofacial Orthopaedics, Sharad Pawar Dental College and Hospital, Datta Meghe Institute of Higher Education and Research, Wardha, IND.

Department of Prosthodontics, Vidarbha Youth Welfare Society Dental College and Hospital, Amravati, IND.

出版信息

Cureus. 2024 Apr 22;16(4):e58752. doi: 10.7759/cureus.58752. eCollection 2024 Apr.

Abstract

Deviations from normal craniofacial development can result in a range of abnormalities, including cleft lip and/or palate, either as standalone conditions or as components of syndromes with varying clinical characteristics. The ability to distinguish between isolated incidents and syndromes with clefts as one component is integral to achieving accurate diagnosis and therapy. The following case presentation highlights the importance of comprehensive screening and differential diagnosis in identifying syndromic connections in patients with cleft lip and palate. In this specific case, the patient presented with polydactyly, camptodactyly, and pelvic area abnormalities, indicating a possible syndromic connection with cleft lip and/or palate.

摘要

正常颅面发育的偏差可导致一系列异常,包括唇裂和/或腭裂,这些异常既可以是独立的病症,也可以是具有不同临床特征的综合征的组成部分。区分孤立事件和以腭裂为一个组成部分的综合征对于实现准确诊断和治疗至关重要。以下病例介绍突出了全面筛查和鉴别诊断在识别唇腭裂患者综合征关联方面的重要性。在这个特定病例中,患者出现多指畸形、屈曲指畸形和盆腔区域异常,提示可能与唇裂和/或腭裂存在综合征关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/238e/11110944/e231898a2b76/cureus-0016-00000058752-i01.jpg

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