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Meaning and Clinical Interest of Minor Malformations and Normal Variants in Neonatology
S Grubeša Raguž1, M Jerković Raguž1,2, J Brzica3
1Clinic for Children's Diseases, Clinical Department of Neonatology, University Clinical Hospital Mostar.
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.
Insights
Minor congenital malformations, physical variants in newborns, are crucial indicators. A study found a 10.59% incidence, highlighting their importance in identifying major congenital malformations.
Area of Science:
- Neonatology
- Pediatrics
- Clinical Genetics
Background:
- Congenital malformations affect all newborn organ systems, with unknown causes in nearly two-thirds.
- Minor malformations (mM) are physical variants, often on the face/extremities, with no medical consequences but can signal major defects.
- Minor malformations occur in ~15% of newborns and are vital indicators for neonatology practice.
Purpose of the Study:
- To analyze the incidence and types of minor malformations in newborns.
- To emphasize the significance of identifying minor malformations as potential indicators of major congenital anomalies.
Main Methods:
- A one-year retrospective study conducted in 2023 at the University Clinical Hospital of Mostar.
- Analysis of the occurrence of 38 specific minor malformations in newborns.
- Data collection on the incidence of minor and major congenital malformations.
Main Results:
- The incidence of minor malformations was 10.59% in the study period.
- The most frequent minor malformations were deep sacral dimple (44.72%), poorly modeled ears (15.08%), and moderate rectal diastasis (14.58%).
- The recorded incidence of major congenital malformations in the country is 8.04%.
Conclusions:
- The presence of three or more minor malformations suggests the possibility of one or more major congenital malformations.
- Systematic screening for minor malformations in newborns is essential for early detection and management of potential major congenital anomalies.
- Early identification of minor malformations is crucial for the well-being of the child and their family.
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