Heterozygous 8q24.3 Duplication in a Neonate with Jarcho-Levin Syndrome Presenting as Severe Scoliosis, Respiratory Distress, Spondylo-Costal Abnormality, Two Vessel Umbilical Cord and Mild Bilateral Hydronephrosis

1. Abstract
We are reporting an infant with Jarcho-Levin syndrome presenting as severe scoliosis at birth, mild dysmorphism, respiratory distress, spondylo-costal abnormality with heterozygous 8q24.3 duplication.
2. Case Presentation
2330 g, 36 weeks and 3 days’ gestation, male infant was born by a cesarean delivery with Apgar scores of 8 at 1 and 8 at 5 minutes. Mom was 20 years old gravida 1, para 0. She denied history of diabetes, she had mild hypertension and mild pre-eclampsia in 3rd trimester of pregnancy. She denied history of smoking, drug abuse or alcohol intake. Pregnancy was complicated by failed 1-hour glucose tolerance test and mom did not complete 3 hours glucose tolerance test. Prenatal studies were suggestive of fetal spine abnormality. Maternal serologies were normal, her group B strep screen was negative. She received 2 doses of betamethasone prior to delivery. She was on prenatal vitamins in pregnancy. Infant required CPAP in delivery room and on admission to nursery he was placed on bubble CPAP.