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- Title
5q14.3 Microdeletions: A Contiguous Gene Syndrome with Capillary Malformation-Arteriovenous Malformation Syndrome and Neurologic Findings.
- Authors
Park, Sung‐Min; Kim, Jeong‐Min; Kim, Gun‐Wook; Kim, Hoon‐Soo; Kim, Byung‐Soo; Kim, Moon‐Bum; Ko, Hyun‐Chang
- Abstract
Deletions within chromosome region 5q14.3q15 have been associated with a spectrum of disorders including developmental delay, hypotonia, absent speech, mild facial dysmorphism, seizures, and brain anomalies. Some cases of concomitant neurologic abnormalities and cutaneous vascular malformation associated with 5q14.3 deletion have been reported. Previously reported cases had similar features, including multiple capillary malformations, and neurologic abnormalities, including epilepsy, hypotonia, and developmental delay. We report a case of 5q14.3 neurocutaneous syndrome presenting with multiple capillary malformations, neurologic abnormalities, and microdeletion in chromosome 5q14.3.
- Subjects
ARTERIOVENOUS malformation; DELETION mutation; NEUROLOGICAL disorders; VASCULAR diseases; CHROMOSOME abnormalities
- Publication
Pediatric Dermatology, 2017, Vol 34, Issue 2, p156
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/pde.13088