GENETIC INSIGHTS INTO 3-M SYNDROME: A NEONATAL CASE REPORT

3-M syndrome is an uncommon autosomal recessive disorder. We present a case of a one-day-old infant with low birth weight, an enlarged head, and shortened limbs, initially suspected of skeletal dysplasia. Genetic testing confirmed the diagnosis of 3-M syndrome.

Publication Details

Journal
International Journal of Advanced Research
Published
2024-10-31
DOI
https://doi.org/10.21474/ijar01/19694
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
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article

GENETIC INSIGHTS INTO 3-M SYNDROME: A NEONATAL CASE REPORT

International Journal of Advanced Research
Genomic variations and chromosomal abnormalities
article

GENETIC INSIGHTS INTO 3-M SYNDROME: A NEONATAL CASE REPORT

article en

Abstract

3-M syndrome is an uncommon autosomal recessive disorder. We present a case of a one-day-old infant with low birth weight, an enlarged head, and shortened limbs, initially suspected of skeletal dysplasia. Genetic testing confirmed the diagnosis of 3-M syndrome.

International Journal of Advanced ResearchVol. 12(10)
Good health and well-being
Openalex Percentile: Top 77%
Genomic variations and chromosomal abnormalities
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