Hurley C M, McHugh N, Carr S, Kelly J L
Department of Plastic & Reconstructive Surgery, University Hospital Galway, Co. Galway, Ireland.
Royal College of Surgeons in Ireland, Dublin, Ireland.
JPRAS Open. 2021 Mar 19;28:126-130. doi: 10.1016/j.jpra.2021.03.001. eCollection 2021 Jun.
The most common deletion syndrome is 22q11.2 and it effects an estimated 1 in 3000 live births. Major features of this multisystem condition include congenital abnormalities, developmental delay, learning difficulties, immunodeficiency, endocrine anomalies and an array of psychiatric disorders. However, variability in phenotype and severity may cause the diagnosis to be overlooked. Early clinical recognition and treatment of DiGeorge syndrome has been shown to increase early life survival, decrease complications and enhance overall quality of life. Skeletal anomalies are infrequently described in 22q11.2 but a subset of patients exhibit upper and lower limb deformities. We present the case of a 5 year-old girl with bilateral fifth digit camptodactyly caused by a fibrous band, and the surgical management of this condition. The current report adds to the body of evidence that camptodactyly is a rare clinical feature of 22q11.2 deletion syndrome, and may serve as a diagnostic aid in these patients.
最常见的缺失综合征是22q11.2，据估计每3000例活产中就有1例受其影响。这种多系统疾病的主要特征包括先天性异常、发育迟缓、学习困难、免疫缺陷、内分泌异常以及一系列精神障碍。然而，表型和严重程度的变异性可能导致诊断被忽视。已证明对迪乔治综合征进行早期临床识别和治疗可提高早期生存率、减少并发症并提高整体生活质量。22q11.2中很少描述骨骼异常，但一部分患者表现出上肢和下肢畸形。我们报告了一名5岁女孩因纤维带导致双侧第五指屈曲挛缩的病例以及对此病症的手术治疗。本报告补充了证据，表明屈曲挛缩是22q11.2缺失综合征的一种罕见临床特征，可能有助于这些患者的诊断。
