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

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 sev...

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Bibliographic Details
Published in:Journal of neonatal-perinatal medicine Vol. 9; no. 2; p. 223
Main Authors: Clive, B, Corsten, G, Penney, L S, Van den Hof, M, El-Naggar, W
Format: Journal Article
Language:English
Published: Netherlands 22-06-2016
Subjects:
22q11 Deletion Syndrome - complications
22q11 Deletion Syndrome - diagnosis
22q11 Deletion Syndrome - therapy
Adult
Diseases in Twins - complications
Diseases in Twins - diagnosis
Diseases in Twins - genetics
Diseases in Twins - therapy
Fathers
Female
Humans
Hypothermia, Induced - methods
Infant, Newborn
Laryngoscopy
Laryngostenosis - complications
Laryngostenosis - diagnosis
Laryngostenosis - genetics
Laryngostenosis - therapy
Pregnancy
Pregnancy, Twin
Severity of Illness Index
Tracheostomy - methods
Treatment Outcome
Twins
larynx
velocardiofacial syndrome
DiGeorge syndrome
22q11.2 deletion
congenital high airway obstruction
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Description
Summary: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.
ISSN:1878-4429
DOI:10.3233/NPM-16915068