“一个患有马尔普赫-米歇尔-明加雷利-卡内瓦莱综合症、多动症和重度抑郁症的孩子”。

IF 1.5 4区 医学 Q4 GENETICS & HEREDITY Psychiatric Genetics Pub Date : 2023-08-01 DOI:10.1097/YPG.0000000000000348
Berna Aygün, Nur Seda Gülcü Üstün
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引用次数: 0

摘要

Malpuech-Michels-Mingarelli-Carnevale (3MC)综合征是一种罕见的遗传病,由四种常染色体隐性综合征合并引起,这些综合征早先被分类为单独的综合征。3MC综合征可能伴有一系列其他疾病,包括唇腭裂、眼睑下垂、眼睑下垂、下斜睑裂、远端畸形、面部畸形(如高弓眉)、生长迟缓、听力障碍、生殖器异常、尾骨延长、尾骨附件、尺桡关节闭锁和颅骨闭锁等骨骼疾病。3MC综合征的主要原因包括MASP1、COLEC10或COLEC11基因的纯合突变。文献中很少报道3MC综合征的病例。在此,我们报告一例11岁的女孩患有3mc综合征,并伴有注意缺陷多动障碍、对立违抗性障碍和重度抑郁症。
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'A child with Malpuech-Michels-Mingarelli-Carnevale syndrome and ADHD and major depressive disorder'.

Malpuech-Michels-Mingarelli-Carnevale (3MC) syndrome, is a rare genetic condition resulting from the combination of four autosomal recessive syndromes which were classified as separate syndromes earlier. 3MC syndrome may be accompanied by a range of other conditions including cleft lips and palate, blepharophimosis, blepharoptosis, downward-sloping palpebral fissures, hypertelorism, facial dysmorphism such as high arched eyebrows, growth retardation, hearing impairment, genital anomalies, elongated coccyx, caudal appendage, radioulnar synostosis and skeletal conditions such as craniosynostosis. The prominent causes of 3MC syndrome include homozygous mutations in the MASP1, COLEC10, or COLEC11 genes. Few cases with 3MC syndrome have been reported in the literature. Here we present a case of 11-year-old girl with 3 MC syndrome in comorbidity with attention deficit hyperactivity disorder, oppositional defiant disorder, and major depressive disorder.

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来源期刊
Psychiatric Genetics
Psychiatric Genetics 医学-神经科学
CiteScore
2.30
自引率
0.00%
发文量
39
审稿时长
3 months
期刊介绍: ​​​​​​The journal aims to publish papers which bring together clinical observations, psychological and behavioural abnormalities and genetic data. All papers are fully refereed. Psychiatric Genetics is also a forum for reporting new approaches to genetic research in psychiatry and neurology utilizing novel techniques or methodologies. Psychiatric Genetics publishes original Research Reports dealing with inherited factors involved in psychiatric and neurological disorders. This encompasses gene localization and chromosome markers, changes in neuronal gene expression related to psychiatric disease, linkage genetics analyses, family, twin and adoption studies, and genetically based animal models of neuropsychiatric disease. The journal covers areas such as molecular neurobiology and molecular genetics relevant to mental illness. Reviews of the literature and Commentaries in areas of current interest will be considered for publication. Reviews and Commentaries in areas outside psychiatric genetics, but of interest and importance to Psychiatric Genetics, will also be considered. Psychiatric Genetics also publishes Book Reviews, Brief Reports and Conference Reports.
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