Cerebrovascular disease associated with Aarskog-Scott syndrome.
Faciogenital dysplasia, also known as Aarskog-Scott syndrome (AAS), is an X-linked dominant congenital disorder characterized by multiple facial, musculoskeletal, dental, neurological and urogenital abnormalities, ocular manifestations, congenital heart defects, low IQ and behavioral problems. Here we describe an unusual presentation of dysplastic carotid artery, basilar artery malformation or occlusion and posterior circulation aneurysm in a 13-year-old male with AAS.
Diluna
Michael L
ML
Department of Neurosurgery, Yale University School of Medicine, 333 Cedar St., Tompkins 4, New Haven, CT 06510, USA. michael.diluna@yale.edu
Amankulor
Nduka M
NM
Johnson
Michele H
MH
Gunel
Murat
M
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D001488:Basilar Artery / Q000002:abnormalities / Q000473:pathology; D002343:Carotid Artery, Internal / Q000002:abnormalities / Q000473:pathology; D002531:Cerebellum / Q000098:blood supply; D002533:Cerebral Angiography; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D003456:Cryptorchidism / Q000175:diagnosis / Q000235:genetics*; D005799:Genes, Dominant; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D006552:Hernia, Inguinal / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D002532:Intracranial Aneurysm / Q000175:diagnosis / Q000235:genetics; D002538:Intracranial Arteriovenous Malformations / Q000175:diagnosis / Q000235:genetics*; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome
C490796:FGD1 protein, human; D020662:Guanine Nucleotide Exchange Factors