Facial dysmorphia and genetic disorders in Moroccan children early diagnosis and the role of advanced genetic techniques

Abstract

Background

Genetic diseases pose significant challenges in populations with limited access to advanced diagnostic tools. This study focuses on rare congenital malformations in pediatric cases, emphasizing facial dysmorphia as a crucial indicator for early diagnosis and genetic counseling.

Methods

A three-year retrospective study was conducted at the Neonatology Service of the Abderrahim Harouchi Mother and Child Hospital in collaboration with the Department of Medical Genetics. Ten cases were selected for detailed analysis. Advanced genetic diagnostic techniques, including karyotyping, FISH, CGH-array, and whole genome sequencing (WGS), were employed to identify underlying genetic anomalies.

Results

Among the 10 analyzed cases, four were from consanguineous families. Genetic anomalies identified included ring chromosome 9, Wolf-Hirschhorn syndrome, and a novel homozygous pathogenic mutation in the FREM1 gene. Each diagnosis led to targeted therapeutic interventions tailored to the clinical and genetic findings.

Conclusion

This study underscores the importance of advanced genetic diagnostic techniques and a multidisciplinary approach in managing congenital malformations. Early and precise identification of genetic anomalies is essential for improving patient outcomes and offering effective genetic counseling, particularly in regions with a high prevalence of genetic disorders.