狼-赫希霍恩综合征(WHS)从婴儿到青少年的特征。

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Balkan Journal of Medical Genetics Pub Date : 2023-07-01 DOI:10.2478/bjmg-2023-0006
D E Popescu, D Marian, M Zeleniuc, Ch Samoila, V Belengeanu
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引用次数: 0

摘要

狼-赫希霍恩综合征是一种罕见的疾病,由4号染色体短臂上的大小不等的末端缺失引起。该综合征表现为典型的面部形态变异、智力障碍、语言迟缓和各种畸形的组合。本报告描述了临床方面和发展演变的男性患者与狼-赫施霍恩综合征,从婴儿期到青春期。患者在11个月时进行了首次检查和诊断,并在4岁和16岁时进行了随访。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager.

Wolf-Hirschhorn syndrome is a rare condition caused by terminal deletions, of variable size, in the short arm of chromosome 4. The syndrome displays the combination of typical morphological facial variations, intellectual disability, language delay, and various malformations. This report describes the clinical aspect and developmental evolution of a male patient with Wolf-Hirschhorn syndrome, from infancy to adolescence. The patient was first examined and diagnosed at 11 months, with follow-up at the ages of 4 and 16.

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CiteScore
1.00
自引率
0.00%
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>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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