A term male infant born at an outlying hospital to nonconsanguineous parents was transferred immediately after birth due to facial dysmorphisms and limb abnormalities (Figs 1A, 1B, 1C).
Born to a 24-year-old gravida 1, para 0 white woman.
Pregnancy complicated by mild oligohydramnios at 36 weeks’ gestation that resolved with hydration; prenatal ultrasonography findings unremarkable with consistent fetal movement throughout pregnancy
Cesarean section at 38 weeks’ gestation for breech presentation
Prenatal maternal laboratory findings: Group B Streptococcus negative, hepatitis B surface antigen negative, rubella immune, HIV negative, rapid plasma reagin nonreactive
Apgar scores: 4 and 9 at 1 and 5 minutes, respectively
The infant was cyanotic and hypotonic at birth with no respiratory effort. He required positive pressure ventilation for approximately 2 min and was then transitioned to nasal cannula oxygen. His tone improved by 5 minutes of age. He was transported to a level 3...