Balkan Journal of Medical Genetics

MEANING AND CLINICAL INTEREST OF MINOR MALFORMATIONS AND NORMAL VARIANTS IN NEONATOLOGY
Grubeša Raguž S, Jerković Raguž M, Brzica £, Džida S, Mikulić S, Kolobarić A, Galić T
*Corresponding Author: Svjetlana Grubeša Raguž, med MD, specialist in pediatrics, Clinic for Children’s Diseases, Clinical Department of Neonatology, University Clinical Hospital Mostar; E-mail: gsvjetlana@gmail.com Phone: 0038763952832; Fax: 0038736341970
page: 37

INTRODUCTION

Malformations are macroscopically visible defects in the shape (morphology) of a certain part of the body, an organ or its part that occurs during organogenesis, i.e. from the second to the twelfth gestational week, and which are visible at birth (1). Deformations are tissue and organ changes that occurred because of intrauterine damage - usu- ally of a mechanical nature. Disruptions are morphologi- cal defects caused by the destruction of tissues that were originally developed normally. A syndrome implies a group of malformations that are the result of a specific cause (2). Congenital malformations are structural changes that oc- curred prenatally and are visible in the newborn at birth. Structurally, malformations can be divided into minor and major malformations. Minor malformations occur in ap- proximately 15% of newborns (3). They do not impair health but should be seen as a possible indicator of the existence of major 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 (4). Most studies have shown that minor malformations occur more often in children with low birth weight and less gestational age than in term newborns (5). Congenital malformations occur as a result of genetic diseases, but also as a result of the interaction of numerous environmental factors with genes (6). There are many envi- ronmental factors such as teratogenic drugs and chemicals, alcohol, maternal infections, ionizing radiation, but also maternal diseases such as unregulated diabetes, epilepsy, phenylketonuria. Each of these exogenous factors will then cause a disruption (7, 8). Major malformations are those that have an unfavorable effect on the function of a certain organ, organ system or the social acceptance of the child, and later on the person as an adult. These malfunctions are often recognized immediately at birth, and sometimes intrauterine. On the other hand, minor malformations usu- ally have no major physiological or cosmetic significance, and examples include preauricular appendages, syndactyly and others (7). Minor malformations are often present in the normal population and are physical variants that, based on the frequency of occurrence in the general population, can be divided into minor malformations and normal variants (9). The normal variant is present in more than 4%, and minor malformations appear in less than 4% of the normal population. They are most often found in the facial area and the distal parts of the extremities (3). Minor malformations have no major clinical significance (apart from aesthetic ones), but according to Mehes’ scheme of minor malforma- tions, three or more minor malformations require additional diagnostic treatment (table 1) (10). In previous studies, the incidence of minor malforma- tions is higher in prematurity, and the aim of this study at the Clinic for Children’s Disease is to show the frequency of minor malformations and normal variants in term newborns.

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