Literature DB >> 6705262

Anomalous cerebral venous drainage in Aarskog syndrome.

P van den Bergh, J P Fryns, G Wilms, R Piot, G Dralands, R van den Bergh.   

Abstract

A 17-year-old female developed a syndrome of benign intracranial hypertension after a minor craniocerebral trauma. On the vertex a congenital scalp anomaly was noticed. An underlying bone defect was revealed by skull radiographs. Cerebral angiography showed absence of the straight sinus as well as other abnormalities of the cerebral venous drainage. In addition, several dysmorphic features, especially of the face and hands were present, which were also found in the mother and the sister. These stigmata could be interpreted as a partial expression of the Aarskog (facial-digital-genital) syndrome after examination of the 9-year-old brother who presented the typical facial, digital and genital features of this X-linked recessively inherited syndrome.

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Year:  1984        PMID: 6705262     DOI: 10.1111/j.1399-0004.1984.tb01991.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  7 in total

1.  Atypical case of Aarskog syndrome.

Authors:  R V Mikelsaar; I W Lurie
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

2.  Aarskog syndrome.

Authors:  M E Porteous; D R Goudie
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318

Review 3.  Deletion of chromosome 2 (p11-p13): case report and review.

Authors:  V P Prasher; V H Krishnan; D J Clarke; C T Maliszewska; J A Corbett
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

4.  MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice.

Authors:  Weiguo Zou; Matthew B Greenblatt; Jae-Hyuck Shim; Shashi Kant; Bo Zhai; Sutada Lotinun; Nicholas Brady; Dorothy Zhang Hu; Steven P Gygi; Roland Baron; Roger J Davis; Dallas Jones; Laurie H Glimcher
Journal:  J Clin Invest       Date:  2011-10-03       Impact factor: 14.808

5.  New autosomal recessive faciodigitogenital syndrome.

Authors:  A S Teebi; K K Naguib; S Al-Awadi; Q A Al-Saleh
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

6.  Cerebrovascular disease associated with Aarskog-Scott syndrome.

Authors:  Michael L Diluna; Nduka M Amankulor; Michele H Johnson; Murat Gunel
Journal:  Neuroradiology       Date:  2007-02-10       Impact factor: 2.995

7.  Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome.

Authors:  Ulaş Cıkla; Philip F Giampietro; Alireza Sadighi; Mustafa K Başkaya
Journal:  NMC Case Rep J       Date:  2015-02-20
  7 in total

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