Anomalous cerebral venous drainage in Aarskog syndrome.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002533:Cerebral Angiography; D002648:Child; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D011559:Pseudotumor Cerebri / Q000235:genetics; D012535:Scalp / Q000002:abnormalities; D013577:Syndrome; D014960:X Chromosome