Laryngeal Web and Subglottic Stenosis in a Neonate with Di-George Syndrome

Authors

  • Silpa Rani Sekhar Ananthapuri Hospitals and Research Institute, Thiruvananthapuram, Kerala, India
  • Kamala Swarnam Ananthapuri Hospitals and Research Institute, Thiruvananthapuram, Kerala
  • Mili Thomas Ananthapuri Hospitals and Research Institute, Thiruvananthapuram, Kerala, India
  • Jayakumar R Menon Ananthapuri Hospitals and Research Institute, Thiruvananthapuram, Kerala

DOI:

https://doi.org/10.52314/fnb.2021.v1i2.21

Abstract

DiGeorge syndrome also known as Velocardiofacial syndrome (VCFS), Shprintzen syndrome, Cayler Cardiofacial syndrome or Conotruncal anomaly face syndrome (CTAF) is an autosomal dominant condition occurring due to 22q11.2 deletion. It is the most common microdeletion syndrome with an estimated prevalence of about 1:4000 births.1 The common defects associated with this deletion was acronymed as CATCH 22 syndrome (Cardiac abnormality, Abnormal facies, Thymic hypoplasia, Cleft palate and Hypocalcemia) by Wilson et al in 1993. About 95% of children with this deletion have loss of function of TBX1 gene, which results in abnormal development of thymus, parathyroid and a portion of great vessels from the 3rd and 4th pharyngeal pouches leading to thymic and parathyroid hypoplasia, congenital heart defects and other features of this syndrome. DiGeorge syndrome is diagnosed by FISH analysis using LSI (Locus Specific Identifier) probe from DiGeorge critical region which indicates deletion of the HIRA/Tuple1 locus at 22q11.2. Even though articles on DiGeorge syndrome have been widely published, the association of structural airway abnormalities like laryngeal web and subglottic stenosis with DiGeorge syndrome has not been reported previously from India to our knowledge. This article is to report a 9-day old female baby, resident of South Kerala, who was brought with clinical findings consistent with DiGeorge syndrome and a critical airway.

Author Biographies

Silpa Rani Sekhar, Ananthapuri Hospitals and Research Institute, Thiruvananthapuram, Kerala, India

MBBS, DNB Resident

Kamala Swarnam, Ananthapuri Hospitals and Research Institute, Thiruvananthapuram, Kerala

MBBS, MD (Paediatrics), Fellowship in Neonatology (Canada), Senior Consultant Paediatrics

Mili Thomas, Ananthapuri Hospitals and Research Institute, Thiruvananthapuram, Kerala, India

MBBS, DCH, DNB Paediatrics, Consultant

Jayakumar R Menon, Ananthapuri Hospitals and Research Institute, Thiruvananthapuram, Kerala

MBBS, DLO, DNB, MS (ENT), FRCS (Glasgow), Senior Consultant Laryngologist

Published

2021-10-14

How to Cite

1.
Sekhar SR, Swarnam K, Thomas M, Menon JR. Laryngeal Web and Subglottic Stenosis in a Neonate with Di-George Syndrome. FNB [Internet]. 2021 Oct. 14 [cited 2021 Oct. 25];1(2):52-4. Available from: https://www.fetusandnewborn.com/journal/index.php/fnb/article/view/21