Miller-Dieker syndrome

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
29497646
(5818703)
 OTHER
Management of general anesthesia in a child with Miller-Dieker syndrome: a case report.
Wakiguchi C, Godai K, Mukaihara K, Ohnou T, Kuniyoshi T, Masuda M, Kanmura Y.
JA Clin Rep. 2015;1(1):14.
Miller-Dieker syndrome (MDS) is a rare disorder characterized by type I lissencephaly and a distinctive facial appearance that may include prominent forehead, bitemporal hollowing, and micrognathia.