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P342 Multiple causes of respiratory distress in an extreme premature newborn with chromosome 6q deletion
  1. Ligia Blaga1,
  2. Melinda Matyas1,
  3. Adriana Ciubotariu2,
  4. Marta Muresan2,
  5. Mariela Militaru3,
  6. Militaru M4,
  7. Gabriela Zaharie1
  1. 1Neonatology Department –University of Medicine and Pharmacy ‘Iuliu Hatieganu’, Cluj Napoca
  2. 2Neonatology Department – Obstetric and Gynaecology Hospital‘D. Stanca’ Cluj Napoca
  3. 3Genetics Department – University of Medicine and Pharmacy ‘Iuliu Hatieganu’ Cluj
  4. 4Pediatric Department – University of Medicine and Pharmacy ‘Iuliu Hatieganu’, Cluj

Abstract

Introduction Chromosome 6q deletion is a rare chromosomal anomaly, associating different phenotypes, depending on the quantity of genetic material that is lost. Most cases exhibit growth restriction, low birth weight, facial dysmorphism, limb and cardiac anomalies, respiratory distress, neuromotor delay. There are 41 cases reported, with variable involvement of the long arm of chromosome 6.

Material and method We present a premature male newborn, 29 weeks gestation age, 950g birth weigh, Apgar scores 2/4/6, with history of prolonged rupture of membranes (21 days). Clinical findings: severe respiratory distress, facial dysmorphism, low set years, short thorax, congenital stridor, clubfoot. He needed nCPAP respiratory support, then SIMV for persisting respiratory distress, because of laryngotracheomalacia (confirmed by ORL exam). Supraglosoplasty was performed. Eventually he needed tracheostomy. Karyotype showed 6q deletion.

Discussions and conclusions There are 20 reported cases of interstitial 6q deletion; respiratory distress is due to thorax anomalies, diaphragmatic hernia, tracheoesophageal fistulas or cardiac malformations. The association of respiratory distress syndrome through surfactant deficiency and possibly congenital pneumonia and congenital laryngotracheomalacia in a premature newborn having interstitial 6q deletion, warranted prolonged respiratory support and hospitalisation.

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