| Literature DB >> 30285969 |
Irim Salik1, Keshar Kubal, Samuel Barst.
Abstract
Kniest dysplasia, or metatropic dysplasia type II, is a rare chondrodysplasia caused by abnormal type II collagen. Clinically, it is characterized by dwarfism, deafness, skeletal derangements, and ocular abnormalities. Mitochondrial diseases produce a spectrum of abnormalities in affected individuals and predominantly impact organs of high energy utilization, including the brain, skeletal muscles, kidneys, and liver. We present the case of a 6-year-old boy with both Kniest dysplasia and underlying mitochondrial disease for examination under anesthesia before cataract surgery. Successful anesthetic management of a patient with Kniest dysplasia and a mitochondrial myopathy is discussed.Entities:
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Year: 2019 PMID: 30285969 DOI: 10.1213/XAA.0000000000000906
Source DB: PubMed Journal: A A Pract ISSN: 2575-3126