ArticleJournal of medical cases2026
Perioperative Care of a Child With Miller-Dieker Syndrome.
Article in Journal of medical cases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
3 authors.
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Abstract
Miller-Dieker syndrome (MDS), also known as Miller-Dieker lissencephaly syndrome or chromosome 17p13.3 deletion syndrome, is a rare chromosomal disorder (microdeletion syndrome) characterized by lissencephaly, altered facial features, and neurologic disability. Classic phenotypic findings include a prominent forehead, micrognathia, and a short nose. Children with MDS are often born with associated end-organ involvement including congenital heart disease as well as motor and neurologic impairments including seizures. Progressive central nervous system involvement frequently leads to upper airway and swallowing dysfunction with recurrent bouts of aspiration, pneumonia, and respiratory failure. We present a 3-year-old child with MDS who presented for anesthetic care for a cystoscopy with ureteroscopy, lithotripsy, and ureteral stent exchange. We explore the genetic history of this disorder, outline end-organ involvement with anesthetic implications, and discuss potential options for perioperative care.
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