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Pediatr Dermatol. 2017 Mar;34(2):156-159. doi: 10.1111/pde.13088.

5q14.3 Microdeletions: A Contiguous Gene Syndrome with Capillary Malformation-Arteriovenous Malformation Syndrome and Neurologic Findings.

Park SM1,2, Kim JM1,2, Kim GW1, Kim HS1, Kim BS1, Kim MB1, Ko HC1,2,3.

Author information

1
Department of Dermatology, Pusan National University Hospital, Busan, Korea.
2
Department of Dermatology, Pusan National University, Yangsan Hospital, Yangsan, Korea.
3
Research Institute for Convergence of Biomedical Science and Technology, Pusan National University, Yangsan Hospital, Yangsan, Korea.

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.

PMID:
28297145
DOI:
10.1111/pde.13088
[Indexed for MEDLINE]

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