Cerebrovascular disease associated with Aarskog-Scott syndrome

Michael L Diluna; Nduka M Amankulor; Michele H Johnson; Murat Gunel

doi:10.1007/s00234-007-0209-1

Cerebrovascular disease associated with Aarskog-Scott syndrome

Neuroradiology. 2007 May;49(5):457-61. doi: 10.1007/s00234-007-0209-1. Epub 2007 Feb 10.

Authors

Michael L Diluna¹, Nduka M Amankulor, Michele H Johnson, Murat Gunel

Affiliation

¹ Department of Neurosurgery, Yale University School of Medicine, 333 Cedar St., Tompkins 4, New Haven, CT 06510, USA. michael.diluna@yale.edu

PMID: 17294235
DOI: 10.1007/s00234-007-0209-1

Abstract

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / genetics*
Adolescent
Basilar Artery / abnormalities
Basilar Artery / pathology
Carotid Artery, Internal / abnormalities
Carotid Artery, Internal / pathology
Cerebellum / blood supply
Cerebral Angiography*
Craniofacial Abnormalities / diagnosis
Craniofacial Abnormalities / genetics*
Cryptorchidism / diagnosis
Cryptorchidism / genetics*
Genes, Dominant
Guanine Nucleotide Exchange Factors / genetics
Hernia, Inguinal / diagnosis
Hernia, Inguinal / genetics*
Humans
Intracranial Aneurysm / diagnosis
Intracranial Aneurysm / genetics
Intracranial Arteriovenous Malformations / diagnosis
Intracranial Arteriovenous Malformations / genetics*
Magnetic Resonance Angiography*
Magnetic Resonance Imaging*
Male
Syndrome

Substances

FGD1 protein, human
Guanine Nucleotide Exchange Factors