Milder及其后对13三体的介绍：病例报告和文献综述

IF 0.2 4区医学 Q4 ANATOMY & MORPHOLOGY

Journal of the Anatomical Society of India Pub Date : 2022-10-01 DOI:10.4103/jasi.jasi_149_21

N. Rashmi, H. Kiran, H. Rajani

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引用次数: 0

摘要

帕陶综合征或13三体是最不常见和最严重的常染色体三体。常见的临床特征包括前脑畸形、多指畸形、手指屈曲、脚摇底、唇腭裂、神经管缺损、心脏缺损等，其中以神经系统受累最为一致。通常在出生时通过典型的先天缺陷和较差的神经系统表现来识别。大约85%-90%的病例在婴儿期死亡，只有5% - 10%的患者存活超过1年。存活超过1年的患者有严重的发育障碍。我们在这里提出了一个婴儿谁来了一个相对温和的形式帕托综合征，并证实了核型。

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Milder and Later Presentation of Trisomy 13: A Case Report and Literature Review

Patau syndrome or Trisomy 13 is the least common and most severe of the viable autosomal trisomies. The frequent clinical features include holoprosencephaly, polydactyly, flexion of the fingers, rocker-bottom feet, cleft lip and palate, neural tube defects, and heart defects, with neurological involvement being the most consistent one. It is usually recognized at birth by the typical birth defects with poor neurologic performance. About 85%‒90% of cases die during infancy, with only 5% to 10% of patients alive beyond 1 year. Patients surviving beyond 1 year have a severe developmental handicap. We present here an infant who came with a relatively milder form of Patau syndrome and was confirmed by karyotyping.

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来源期刊

Journal of the Anatomical Society of India ANATOMY & MORPHOLOGY-

CiteScore

0.40

自引率

25.00%

发文量

审稿时长

>12 weeks

期刊介绍： Journal of the Anatomical Society of India (JASI) is the official peer-reviewed journal of the Anatomical Society of India. The aim of the journal is to enhance and upgrade the research work in the field of anatomy and allied clinical subjects. It provides an integrative forum for anatomists across the globe to exchange their knowledge and views. It also helps to promote communication among fellow academicians and researchers worldwide. It provides an opportunity to academicians to disseminate their knowledge that is directly relevant to all domains of health sciences. It covers content on Gross Anatomy, Neuroanatomy, Imaging Anatomy, Developmental Anatomy, Histology, Clinical Anatomy, Medical Education, Morphology, and Genetics.