TY - JOUR AU - Sekhar, Silpa Rani AU - Swarnam, Kamala AU - Thomas, Mili AU - Menon, Jayakumar R PY - 2021/10/14 Y2 - 2024/03/29 TI - Laryngeal Web and Subglottic Stenosis in a Neonate with Di-George Syndrome JF - Fetus and Newborn JA - FNB VL - 1 IS - 2 SE - Case Report DO - 10.52314/fnb.2021.v1i2.21 UR - https://www.fetusandnewborn.com/journal/index.php/fnb/article/view/21 SP - 52-54 AB - <p>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.</p> ER -