Indira Gandhi Institute of Child Health

Stromme syndrome presenting with classic microcephaly and apple-peel intestinal atresia in a neonate: a genetically confirmed case report

<title>Abstract</title> <bold>Background:</bold> Stromme syndrome is an exceptionally rare autosomal recessive ciliopathy caused by biallelic pathogenic variants in the <italic>CENPF</italic> gene. It is classically characterized by microcephaly and apple-peel type intestinal atr...