Case Presentation
A male newborn weighing approximately 2,400 grams was delivered
spontaneously at 36 weeks’ gestation as the first child of
nonconsanguineous parents. At 29 to 30 weeks’ gestation, fetal
ultrasonography detected a left CDH, bilateral cleft lip and palate, and
bilateral, echogenic, and enlarged kidneys. Parents declined
amniocentesis. Immediately after delivery, the patient was intubated and
ventilated. His Apgar score was 4 at one minute and 7 at five minutes.
Physical examination revealed multiple associated malformations such as
microphthalmia, bilateral cleft lip and palate, deformed left ear,
scaphoid abdomen, micropenis, bilateral cryptorchidism, rocker-bottom
feet, and right-hand ectrodactyly with four fingers (oligodactyly), and
deep medial cleft giving the appearance of lobster claws (Figures 1–6).
Left CDH and bilateral hydroureter and hydronephrosis were confirmed by
radiography. Brain ultrasonography results revealed cerebellar
hypoplasia and hypogenesis of the corpus callosum, and echocardiography
results showed mild tricuspid regurgitation and a deformed/calcified
tricuspid valve. Trisomy was suspected, and the diagnosis of
non-disjunction trisomy 13 was confirmed by genetic testing (karyotype
47,XY,+13).
The infant required high-frequency oscillator ventilation and inhaled
nitric oxide for severe respiratory failure, refractory hypoxia, and
inotropic support. He deteriorated with no response and died on his
fourth day of life.