Clinical case
A male newborn was born by vaginal delivery at 40 weeks in the maternity
ward of the district hospital (MURAMVYA), with severe intrauterine
growth restriction in a polymalformative setting, then transferred the
following day to the neonatology unit of the Kamenge University Hospital
(CHUK) for better management. The multiparous woman was 34 years old,
and denied any toxic exposures or any illness during pregnancy and
family history of the syndrome. The father is 41 years old and a farmer.
The parents denied any prior family hereditary anomalies. She had
attended two prenatal consultations; all the biological tests carried
out releaved no particularities. Two obstetrical ultrasounds had been
performed, but no antenatal anomalies were detected. The newborn was the
5th of 5 apparently healthy siblings. They all come from a
non-consanguineous couple. On initial assessment in the delivery room,
the newborn had a good Apgar and was respiratory and hemodynamically
stable. On admission to the CHUK neonatal unit, evaluation of
anthropometric parameters revealed a low weight of 1500 grams
(< -3DS), a short stature of 37 cm (< -3DS) and
microcephaly with a head circumference of 28 cm (< -3DS).
Physical examination of the head revealed normotensive, pulsatile
fontanelles and a 5x5 cm of aplasia cutis congenital in the left
parietal region, associated with superficial dilatation of the scalp
veins (fig. Ia). Hyperthelorism and dysmorphia facial were noted.
Examination of the limbs revealed brachydactyly associated with
hypoplasia of all fingers except the thumb and index finger of the right
hand (fig. IIa); the thumb and small finger of the left hand (fig. IIb).
In the right foot, amniotic amputation of the large toe with nail
agenesis was also observed (fig. IIc). In the left foot, we observed
nail agenesis, syndactyly amputation of the large and 3rd toes with
clinodactyly of the 2nd toe and small finger with brachydactyly of the
median with index and middle fingers with brachydactyly of the ring
finger (fig. IId).
Cardiovascular, pulmonary, and neurological examinations were within
normal limits. Paraclinical examinations were carried out, including
transfontanellar and abdominal ultrasound, with no abnormalities noted,
and X-rays of the limbs, which confirmed the above-mentioned
abnormalities (Figs. IIIa, b, c, d). Medication with antibiotics and
nutrition with maternel milk had been started, and local care of the
aplasia cutis congenital with isotonic saline (NaCl 0.9%) was applied;
as for the limb abnormalities, no treatment was initiated. After 4 weeks
of hospitalization in neonatology, we observed that the scalp ulceration
was healing and that he was gaining weight (2500g). He was discharged
with follow-up appointments at 3, 6, 9, and 12 months of age, to assess
his weight-for-height and the healing of the aplasia cutis congenital.