Cerebrovascular disease associated with Aarskog-Scott syndrome.

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.

• Authors: Michael L Diluna, Nduka M Amankulor, Michele H Johnson, Murat Gunel
• Journal: Neuroradiology (Neuroradiology) Vol. 49 Issue 5 Pg. 457-61 (May 2007) ISSN: 0028-3940 [Print] Germany
• PMID: 17294235 (Publication Type: Case Reports, Journal Article)

Chemical References

• FGD1 protein, human
• Guanine Nucleotide Exchange Factors

Topics

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