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
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DISCUSSION
The clinical features of genetic diseases are varied.
Various malformations and congenital abnormalities that
are already present intrauterine or postpartum can arouse
the suspicion that it is a genetic disease. Therefore, clini-
cal features, i.e. the clinical examination of the child, is
an extremely important part of diagnostics. Suspicion of a
genetic disease can be aroused by various forms of facial
dysmorphic disorder: wide face, coarse facial features,
protruding lateral parts of the frontal bone, widely spaced
eyes, mongoloid or anti-mongoloid shaped eyes, micro-
phthalmia, epicanthus, wide and high nose root, low-laid
and malformed ears, microtia, macrotia and anotia, mac-
rostomia and microstomia, cleft lip and cleft palate, as
well as high-laid palate. Any morphological change with
an incidence greater than 4% in the population is a normal
variation in development (12). Some authors state that
normal variation is any morphological category with an
incidence greater than 6% (13).
We conducted a one-year survey from 2023 until
2024 and compared it with a similar survey from 28 years
ago, conducted in the same geographic area and in the
same hospital, on almost the same number of births (14,
15). Šumanović D. et al, state in their research through
1995/1996, that the incidence of minor malformations
stood at 23.7% (14, 15). This research was carried out
at the end of the war in Bosnia and Herzegovina. In our
research, after almost 28 years, the incidence of minor
malformations was halved to 10.59%. Most studies have
shown that minor malformations occur more often in chil-
dren with low birth weight and less gestational age than
in term newborns (4), which is not the case in our study.
Most of our newborns with minor malformations were
born after the 37 th week of gestational age and with proper
weight for gestational age. The results may be different
for each population because the studies were conducted
in relatively distant and different geographical regions.
Neonatologists and medical staff are the first to notice
minor malformations in newborns. Thus, Sawardekar
states the incidence of minor malformations in a regional
hospital in Oman was at 12.4% per 1000 births (16). A
study from Egypt by El Awady H. et al., reported an in-
cidence of 21.6% (17). A study from Congo reported that
34.8% of newborns had one minor malformation, 11.6%
had two, and 4.3% had three (18). The presence of three
or more minor malformations was associated with a 4.5
times higher risk of death (19). 25.4% of newborns born to
mothers who used prescription opioids during pregnancy
were diagnosed with major or minor congenital malforma-
tions (20). Some characteristics in one population may be
minor malformations, and in another a normal variant of
development. Thus, Tsai et al. report the simian line and
mongoloid-shaped eye slits as a normal variant for Chinese
newborns (21). In other ethnic groups, however, these
signs serve as predictive markers for some chromosomal
aberrations and specific syndromes (10).
Down syndrome and cleft palate accounted for 56%
of oral cavity malformations in our study population of 199
children. Of these, six children had Down syndrome and
eight had cleft palate. Common minor oral malformations
in these children included high-arched palate, bifid uvula,
small oral opening, large tongue. Hod M. et al., investi-
gated the prevalence of minor congenital malformations
in newborns of mothers with gestational diabetes, and this
prevalence was between 19.4% and 20.5%. In our study,
however, it was an almost imperceptible percentage of
3.45% (22). In this study, the most common pathological
condition of the mother was hypothyroidism 32/15.61%.
According to Kolobarić et al. (23), women with hypo-
thyroidism had significantly higher rates of gestational
diabetes (15%) and preeclampsia (3.5%). Gestational
diabetes itself carries the prevalence of minor congenital
malformations. In our research, the most common minor
malformation was a deep sacral dimple in as much as
44.72%, which is also confirmed by research almost three
decades ago in the same area of ours (15). This is in favor
of the normal variants of our geographical area. Pediatric
neurosurgeons concur that imaging studies are not required
for newborns and infants presenting with simple sacral
dimple (24). Immediately after the birth of the newborn,
already in the delivery room, an orientation examination
should be done in which we look for malformations. Some
of the congenital malformations are immediately notice-
able and do not necessarily endanger the child’s life. An
example of such malformations can be ear deformations,
which in our research is the second most frequent malfor-
mation: poorly modeled ears at 15.08%. Bader D. et al. (25)
report a frequency for malformation of the ears of 43.1%
and state that the male gender is more frequently affected
by this, coinciding with our research. However, there are
malformations that are not immediately visible and can
endanger the child’s life, such as congenital anomalies of
the heart. Almost three decades ago, the aforementioned
study from our geographical area (15) stated the incidence
of major malformations of 57.5%, and in our study the
prevalence of major malformations was 8.04%. We can
contribute this big drop to better prenatal care of pregnant
women, the improvement of prenatal diagnostics and the
improvement of the socio-economic conditions of preg-
nant women. El Awady H. et al. report a major incidence
at 78.4%, and the cardiovascular system was most often
affected in 32.4%. This coincides with our research (17).
Newborns with congenital heart disease exhibit a broad spectrum of dysmorphism (26). The great importance of
minor malformations is that in 90% of all newborns who
have 3 or more minor malformations, a major malfor-
mation also exists. Thus, minor malformations indicate
the possible presence of major malformations (27). The
risk of major malformations increases with the number
of minor malformations. Any newborn with 3 or more
minor malformations must be clinically treated and major
malformations such as cardiac, renal or spinal anomalies
must be sought. Newborns who were discharged after 24
hours from the maternity hospital and who had 3 minor
malformations were recommended further diagnostic and
ultrasound treatment. Newborns who were transferred to
the Clinical Department of Neonatology with three or
more minor malformations were subjected to diagnostic
processing.
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