title: 5q14.3 Microdeletions: A Contiguous Gene Syndrome with Capillary Malformation-Arteriovenous Malformation Syndrome and Neurologic Findings.
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.
authors.affiliation: Department of Dermatology, Pusan National University Hospital, Busan, Korea.|Department of Dermatology, Pusan National University, Yangsan Hospital, Yangsan, Korea.
authors.forename: Sung-Min
authors.initials: SM
authors.lastname: Park
authors.affiliation: Department of Dermatology, Pusan National University Hospital, Busan, Korea.|Department of Dermatology, Pusan National University, Yangsan Hospital, Yangsan, Korea.
authors.forename: Jeong-Min
authors.initials: JM
authors.lastname: Kim
authors.affiliation: Department of Dermatology, Pusan National University Hospital, Busan, Korea.
authors.forename: Gun-Wook
authors.initials: GW
authors.lastname: Kim
authors.affiliation: Department of Dermatology, Pusan National University Hospital, Busan, Korea.
authors.forename: Hoon-Soo
authors.initials: HS
authors.lastname: Kim
authors.affiliation: Department of Dermatology, Pusan National University Hospital, Busan, Korea.
authors.forename: Byung-Soo
authors.initials: BS
authors.lastname: Kim
authors.affiliation: Department of Dermatology, Pusan National University Hospital, Busan, Korea.
authors.forename: Moon-Bum
authors.initials: MB
authors.lastname: Kim
authors.affiliation: Department of Dermatology, Pusan National University Hospital, Busan, Korea.|Department of Dermatology, Pusan National University, Yangsan Hospital, Yangsan, Korea.|Research Institute for Convergence of Biomedical Science and Technology, Pusan National University, Yangsan Hospital, Yangsan, Korea.
authors.forename: Hyun-Chang
authors.initials: HC
authors.lastname: Ko
mesh_terms: D001165:Arteriovenous Malformations / Q000235:genetics* / Q000473:pathology*; D002196:Capillaries / Q000002:abnormalities* / Q000473:pathology; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D006801:Humans; D007223:Infant; D064326:MEF2 Transcription Factors / Q000235:genetics; D008297:Male; D019339:Port-Wine Stain / Q000235:genetics* / Q000473:pathology*; D020729:p120 GTPase Activating Protein / Q000235:genetics*
chemical_list: D064326:MEF2 Transcription Factors; C578040:MEF2C protein, human; C557248:RASA1 protein, human; D020729:p120 GTPase Activating Protein