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.

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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