Severe laryngeal stenosis in newly born twins with 22q11.2 deletion syndrome: A case report

B. Clive*, G. Corsten, L.S. Penney, M. Van den Hof, M. El-Naggar | JNPM 2016;

Chromosome 22q11.2 deletion syndrome is common and presents with a range of clinical features from cardiac malformations to hypocalcemia. Laryngeal anomalies are not a common feature of this syndrome. We describe newly born twins who presented with unexpected severe birth depression secondary to severe type IV glottic webs requiring extensive resuscitation and emergency tracheostomy. They were diagnosed postnatally to have deletion of 22q11.2. The successful resuscitation of these infants at birth was only possible because they were born in a tertiary care hospital. This report shows the critical nature of prenatal diagnosis of 22q11.2 deletion syndrome.

*Corresponding Author: 

Breanna Clive, IWK Health Centre, 5850-5980 University Avenue, Halifax, NS B3K 6R8, Canada. Tel.: +1 902 449 5774; Fax: +1 902 470 6469;