4q间质缺失与终末缺失:2例无亲缘关系患儿的临床特征比较

IF 0.4 Q4 MEDICINE, RESEARCH & EXPERIMENTAL
P. Pavone, X. Pappalardo, R. Lubrano, S. Savasta, A. Verrotti, P. Parisi, R. Falsaperla
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引用次数: 0

摘要

4q缺失综合征定义了一种疾病,它可能涉及到从着丝粒到4q31的间质区域缺失或从4q31到4qter的末端区域缺失的患者。在这里,我们描述了两个无血缘关系的同龄儿童同时随访的临床表型,病例1表现为4q间质,病例2表现为终末4q缺失,并将它们相互比较,并与文献报道的结果进行比较。两例患儿均表现出复杂、异质性的临床表现,包括颅面特征、出生前生长衰竭、言语和发育迟缓。病例2还发现甲状腺和胆固醇功能障碍。分析这些数据发现,间质缺失和终末缺失4q的临床差异不大,通过对两例患儿和文献相关病例的比较发现,缺失的4q区域之间没有明显的表型差异。4q缺失综合征这个术语——包括间质和末端缺失的4q区域——似乎是合适的。值得注意的是,病例2中出现的胆固醇代谢和甲状腺功能障碍,无论是否得到其他观察结果的证实,都可能具有临床价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
4q interstitial and terminal deletion: clinical features comparison in two unrelated children
The 4q deletion syndrome defines a disorder, which may involve patients affected by either the deletion of the interstitial region from the centromere to 4q31 or by the deletion of the terminal region from 4q31 to 4qter. Here, we describe clinical phenotypes of two unrelated children of the same age followed at the same time, with case 1 presenting with 4q interstitial and case 2 with terminal 4q deletion, and compare them each other and with those reported in the literature. Both children showed complex, heterogeneous clinical manifestations, including craniofacial features, pre-postnatal growth failure, speech and developmental delay. In case 2, thyroid and cholesterol dysfunction were also found. Analyzing these data, clinical differences between interstitial and terminal 4q deletions are scanty and no significant phenotype differences were found between the 4q regions deleted as observed in the comparison of the two children and the related cases of the literature. The term 4q deletion syndrome - inclusive for both the interstitial and terminal 4q regions deleted - seems to be appropriate. To note, the dysfunction of cholesterol metabolism and thyroid presented by case 2 may be clinically worthwhile, whether confirmed by other observations.
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来源期刊
AIMS Medical Science
AIMS Medical Science MEDICINE, RESEARCH & EXPERIMENTAL-
自引率
14.30%
发文量
20
审稿时长
12 weeks
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