Multiple Intestinal Anomalies in a Newborn with 22q11.2 Microdeletion Syndrome: A Case Report and Literature Review

Area of Science:

• Genetics and Developmental Biology
• Pediatric Medicine
• Medical Diagnostics

Background:

• DiGeorge syndrome, or 22q11.2 deletion syndrome (DS), is a complex genetic disorder.
• Despite increased knowledge over 40 years, diagnosis remains challenging due to highly variable clinical presentations.
• The syndrome is associated with a wide spectrum of congenital anomalies.

Purpose of the Study:

• To report a novel and rare constellation of anomalies in an infant diagnosed with 22q11.2 DS.
• To contribute to the understanding of the phenotypic variability of 22q11.2 deletion syndrome.
• To review existing literature on DiGeorge syndrome and associated congenital malformations.

Main Methods:

• Case presentation of an infant with a unique combination of congenital anomalies.
• Clinical evaluation and diagnostic workup for 22q11.2 deletion syndrome.
• Comprehensive literature review of DiGeorge syndrome and related conditions.

Main Results:

• The infant presented with annular pancreas, anorectal malformation, Morgagni-type congenital diaphragmatic hernia, and ventricular septal defect.
• This specific combination of anomalies has not been previously reported in association with DiGeorge syndrome.
• The findings underscore the broad spectrum of potential manifestations in 22q11.2 DS.

Conclusions:

• This case expands the known phenotypic spectrum of 22q11.2 deletion syndrome.
• The described constellation of anomalies highlights the importance of considering 22q11.2 DS in infants with complex congenital malformations.
• Further research is needed to fully elucidate the genotype-phenotype correlations in this syndrome.