A Novel Genetic Syndrome Presenting with Developmental Delay and Microcephaly: A Case Report

Author(s)	Prof. Dr. Pradeep V Mahajan, Dr. Harsadbhai D Patel, Dr. Pallavi Sumit Lale, Dr. Harry Mascarenhas, Ms. Marilyn Arthur Dsouza
Country	India
Abstract	The rare and unique case presentation of the patient's condition, global developmental delay, microcephaly, and the familial pattern. A 14-month-old female with microcephaly with symptoms of delayed speech, delayed motor milestones, and weight/growth lag. The family history of an elder sister with similar symptoms and the unaffected twin brother. Her MRI findings (simplified widening of gyri, small brain size) and the chromosomal study WES results suggest an autosomal recessive trait. Mothers do not have any history of TORCH infection prenatally or antenatally.
Keywords	Microcephaly, BIONICA-MDI, Delayed Development, Neurological Disorders
Field	Biology > Genetics / Molecular
Published In	Volume 7, Issue 6, November-December 2025
Published On	2025-12-06
DOI	https://doi.org/10.36948/ijfmr.2025.v07i06.62714

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