Meaning and Clinical Interest of Minor Malformations and Normal Variants in Neonatology.

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI:10.2478/bjmg-2024-0010
S Grubeša Raguž, M Jerković Raguž, J Brzica, S Džida, S Mikulić, A Kolobarić, T Galić
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Abstract

Congenital malformations can be found in all organ systems of a newborn. Almost two-thirds of congenital malformations have an unknown cause. There are minor (mM) and major (MM) congenital malformations. Searching for minor malformations has its vital place in everyday neonatology practice. Minor malformations are defined as physical variants that have no medical consequences and are mostly located on the face and distal parts of the extremities and are easily noticed. Minor malformations occur in approximately 15% of newborns. Minor congenital malformations are of great importance because they can be an indicator of the existence of major congenital malformations and syndromes. In a one-year retrospective study that analyzed the occurrence of 38 minor malformations through the year 2023 at the University Clinical Hospital of Mostar, there was an incidence of 10.59% of minor malformations. The most frequently recorded minor malformation was deep a sacral dimple at 44.72%, then poorly modeled ears at 15.08%, and moderate rectal diastasis at 14.58%. Three or more minor congenital malformations indicate one or more major congenital malformations. Major congenital malformations are severe structural defects of tissues and organs that endanger life, create serious functional disturbances and hinder the development of the child. In our country, there is currently a recorded incidence of 8.04%. The search for minor malformations in the newborn period is of great importance to children and the whole family, and the search must not be neglected.

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新生儿科轻微畸形和正常变异的意义和临床意义。
新生儿的所有器官系统都可能出现先天性畸形。近三分之二的先天性畸形病因不明。先天性畸形分为小畸形(mM)和大畸形(MM)。在新生儿科的日常工作中,寻找轻微畸形至关重要。轻微畸形是指没有医疗后果的身体变异,大多位于面部和四肢远端,很容易被发现。大约 15%的新生儿会出现轻微畸形。先天性小畸形非常重要,因为它们可以作为存在先天性大畸形和综合征的指标。莫斯塔尔大学临床医院进行了一项为期一年的回顾性研究,分析了截至 2023 年发生的 38 例轻微畸形,其中轻微畸形的发生率为 10.59%。最常见的小畸形是骶骨深凹陷,占 44.72%,然后是耳朵模型不佳,占 15.08%,以及直肠中度裂开,占 14.58%。三个或三个以上的轻度先天畸形预示着一个或一个以上的重度先天畸形。重大先天性畸形是指严重的组织器官结构缺陷,危及生命,造成严重的功能障碍,阻碍儿童发育。在我国,目前有记录的发病率为 8.04%。寻找新生儿期的轻微畸形对儿童和整个家庭都具有重要意义,不可忽视。
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来源期刊
CiteScore
1.00
自引率
0.00%
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0
审稿时长
>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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