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.