卡萨马西玛-莫顿-南斯综合征和肢体-体壁缺损:第二例病例及表型评估。

IF 1.3 4区 医学 Q3 PATHOLOGY
Víctor M Salinas-Torres, Rafael A Salinas-Torres
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引用次数: 0

摘要

卡萨马岛-莫顿-南斯综合征(CMNS)是一种罕见疾病,以脊柱骨发育不良(SCD)、肛门闭锁和泌尿生殖系统畸形为特征。我们描述了一名伴有肢体-体壁缺损(LBWD)的 CMNS 胎儿,这是文献中第二例此类病例。我们将其表型差异与之前报道的病例(包括轴骨骼分段异常、体壁缺损或生殖器缺失/异常病例)进行了比较,揭示了SCD在CMNS中的一致存在。然而,正如预期的那样,出现了广泛的表型谱,为与鉴别诊断相关的胎儿/新生儿筛查提供了有用的观察结果。使用成像和下一代骨骼发育不良多基因面板的先进诊断方法是可取的,因为这些方法能够为父母咨询、可能的选择性终止妊娠以及产前和/或产后护理提供及时、可操作、知情的决策。大多数报告病例并未提及这些通常是致命性异常的复发。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of the Second Case and Phenotypic Assessment.

Casamassima-Morton-Nance syndrome (CMNS) is a rare disorder characterized by spondylocostal dysostosis (SCD), anal atresia, and urogenital anomalies. We describe a fetus with CMNS associated with a limb-body wall defect (LBWD), the second such case in the literature. We compare the phenotypic differences with previously reported cases, including those with segmentation anomalies of the axial skeleton, body wall defects, or absent/abnormal genitalia, revealing the consistent presence of SCD in CMNS. However, as expected, a wide phenotypic spectrum emerges, providing useful observations for fetal/neonatal screening relevant to differential diagnoses. Advanced diagnostic methods using imaging and next-generation skeletal dysplasia multi-gene panels are advisable, as they enable timely, actionable, well-informed decisions for parental counseling, potential elective termination of pregnancy, and prenatal and/or postnatal care. Most reported cases do not mention the recurrence of these usually lethal anomalies.

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来源期刊
CiteScore
3.70
自引率
5.30%
发文量
59
审稿时长
6-12 weeks
期刊介绍: The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.
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