Marzo 2017  (2)



Caso 1: An Infant with Skeletal Abnormalities and Facial Dysmorphisms


Jieun Kwak                      Neoreviews      Vol. 18 Nr. 3     Marzo  2017


A male infant is born at 29 5/7 weeks' gestation via vaginal delivery to a 35-year-old gravida 2 para 1 mother with limited prenatal care. His mother initially presents at a referring hospital in preterm labor, where she is given a dose of betamethasone and then transferred. On admission, prenatal laboratory tests are performed. Labor is augmented due to a 7-cm dilation. The infant's birth measurements are as follows: weight, 1.530 g (68th percentile); length, 35 cm (3rd percentile) and head circumference, 27.5 cm (45th percentile). His Apgar scores are 8 at 1 minute and 9 at 5 minutes. His physical examination findings are notable for musculoskeletal abnormalities, including limited extension at the elbows bilaterally and an internally rotated left shoulder. He is also noted to have slightly anteverted nares and a depressed nasal bridge. On abdominal examination, he has slight distention but no hepatosplenomegaly. No skin rashes are noted. After delivery, he has intermittent respiratory distress that improves with stimulation. Due to his low oxygen saturation values and increased work of breathing, he is first started on continuous positive airway pressure and then undergoes intubation to improve saturations.