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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)
A patient with several cogenital malformations, principally in the face, cardiovascular system and genitalia, was found to have the karyotype 46,X,der(X),t,X;3)(Xqter leads to p21::3q12 leads to 3qter). A comparison of the clinical and cytogenetical findings with smaller cases in the literature led to the conclusion that a partial trisomy 3q is the most(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)
Ehlers Danlos syndrome type IV is an often lethal disease caused by various mutations of type III collagen genes. It presents in infancy and childhood in several ways, and the symptoms and signs include low birth weight, prematurity, congenital dislocation of the hips, easy inappropriate bruising (sometimes suspected as child battering), and a diagnostic(More)
Piezogenic papules (PP) are pressure-induced lesions that appear on the heels while bearing weight, due to herniation of fat tissue into the dermis. They are present in the majority of adults. Because of the poor quality of connective tissue in hereditary disorders of connective tissue, such as the Ehlers-Danlos syndrome, it has been suggested that PP would(More)
An in depth study on growth, bone age, cranial CT scans and plasma somatomedin activity (SM-act) was made of 22 children with Sotos syndrome. In addition to the known characteristics of the syndrome, thin and brittle nails were found in three adolescent patients. The mean body stature, expressed as standard deviation score, increased from 2.2-2.8 in the 1st(More)