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

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

J Neonatal Perinatal Med. 2016 May 18;

Authors: Clive B, Corsten G, Penney LS, Van den Hof M, El-Naggar W

Abstract
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.

PMID: 27197926 [PubMed - as supplied by publisher]

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