J W Oorthuys

Learn More
A neurodegenerative disease is reported in 5 related families, belonging to a Dutch genetic isolate. Seven children (5 females, 2 males) had microcephaly, spastic pareses, severe extrapyramidal dyskinesia and failure to acquire any voluntary skills. Four died during childhood. Marked pontocerebellar hypoplasia and progressive cerebral atrophy were found by(More)
We describe two patients with cerebrovascular complications of Ehlers-Danlos syndrome type IV. A 16-year-old girl with spontaneous internal carotid artery dissection and a 46-year-old woman with aneurysmal subarachnoid hemorrhage and multiple aortic dissections were both deficient in collagen type III, analyzed in cultured skin fibroblasts. To our(More)
In 1952 Ito described the occurrence of a bilateral systematized depigmented nevus in a 22-year-old Japanese woman. He used the term incontinentia pigmenti achromians. The condition has been described under various designations, such as for instance Ito's hypomelanosis. Till now 71 patients with this syndrome are described. We will report 4 cases, 2 boys(More)
  • 1