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The neuropathy of Cockayne syndrome [PDF]
Acta Neuropathologica, 1983 We studied three unrelated infants and three adolescent siblings with Cockayne syndrome. The infants showed severe psychomotor retardation. Neurologic manifestations in the siblings were less severe and only slowly progressive. All patients had slowed peripheral nerve conduction.
Willy O. Renier +5 more
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Journal of Computer Assisted Tomography, 1982
The diagnosis of Cockayne syndrome was established with the aid of cranial computed tomography (CT) in a child with growth deficiency, mental retardation, and neurologic findings which are typical for this rare childhood disorder. Calcification of basal ganglia and hydrocephalus ex vacuo are neuropathologic characteristics of Cockayne syndrome which ...
E D, Levinson +4 more
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The diagnosis of Cockayne syndrome was established with the aid of cranial computed tomography (CT) in a child with growth deficiency, mental retardation, and neurologic findings which are typical for this rare childhood disorder. Calcification of basal ganglia and hydrocephalus ex vacuo are neuropathologic characteristics of Cockayne syndrome which ...
E D, Levinson +4 more
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Medizinische Genetik, 2012
Zusammenfassung Das Cockayne-Syndrom (CS) ist eine seltene, autosomal-rezessive Erkrankung, charakterisiert durch vorzeitige Alterungssymptomatik mit Degeneration des zentralen Nervensystems, Verlust des subkutanen Fettgewebes und Kachexie. Auslöser dieser Erkrankung sind autosomal-rezessiv vererbte Mutationen im CSA- und CSB-Gen.
Y. Kamenisch, M. Berneburg
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Zusammenfassung Das Cockayne-Syndrom (CS) ist eine seltene, autosomal-rezessive Erkrankung, charakterisiert durch vorzeitige Alterungssymptomatik mit Degeneration des zentralen Nervensystems, Verlust des subkutanen Fettgewebes und Kachexie. Auslöser dieser Erkrankung sind autosomal-rezessiv vererbte Mutationen im CSA- und CSB-Gen.
Y. Kamenisch, M. Berneburg
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Blepharokeratoconjunctivitis in Cockayne Syndrome
Journal of Pediatric Ophthalmology & Strabismus, 2009<p>Cockayne syndrome is a multisystemic, autosomal recessive disease resulting from abnormalities of DNA repair. Ocular manifestations are common, particularly congenital cataract and retinal dystrophy. This study describes a previously unreported association of blepharokeratoconjunctivitis (BKC) in Cockayne syndrome.
Jane Ashworth +3 more
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Neurology, 1980
We report a case of Cockayne syndrome with several atypical features. The patient displayed many of the typical features, including cachectic bird-headed dwarfism, photodermatitis, normal pressure hydrocephalus, and extraphyramidal and pyramidal tract signs. However, she also displayed the unusual and previously unreported features of late age at onset,
John J. Kepes +2 more
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We report a case of Cockayne syndrome with several atypical features. The patient displayed many of the typical features, including cachectic bird-headed dwarfism, photodermatitis, normal pressure hydrocephalus, and extraphyramidal and pyramidal tract signs. However, she also displayed the unusual and previously unreported features of late age at onset,
John J. Kepes +2 more
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Renal disease in Cockayne syndrome
European Journal of Medical Genetics, 2020Cockayne Syndrome (CS) is a rare autosomal recessive multi-systemic disorder, characterized; by developmental delay, microcephaly, severe growth failure and sensorial impairment. Renal complications have been reported but remain underinvestigated.
Ariane Zaloszyc +9 more
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Cockayne syndrome in a family.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi, 2002Cockayne syndrome is one of the families of rare progeroid syndromes. We report on two female siblings suffering from Cockayne syndrome. At birth, they both appeared normal, although both demonstrated a low birth weight and breech presentation. The first-born child died at the age of eight months with associated contracted limbs, brain calcification ...
Yin-Hsiu Chien +2 more
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COCKAYNE'S SYNDROME IN TWO SISTERS
Acta Paediatrica, 1974Abstract. Srivastava, R. N., Gupta, P. C., Mayekar, G. and Roy, S. (Departments of Paediatrics, Neurology and Pathology, All India Institute of Medical Science, New Delhi, India). Cockayne's Syndrome in two sisters. Acta Paediatr Scand, 63 461, 1974.–Clinical and laboratory data in two sisters with Cockayne's syndrome are presented.
P. C. Gupta +3 more
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Cockayne's Syndrome with Chromosomal Analysis
Archives of Pediatrics & Adolescent Medicine, 1963Introduction Since the introduction of techniques for the examination of human chromosomes, a number of congenital anomalies have been found to be associated with autosomal trisomy. The most well documented is the clinical syndrome of mongolism which is associated with trisomy of one of the small acrocentric chromosomes belonging to Group 21-22.
Chester W. Fink +2 more
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An atypical case of Cockayne's syndrome
Clinical Genetics, 1973Extreme postnatal growth disturbance, loss of vision and hearing, atrophy of the skin and general cachexia are features of a syndrome observed in the only child of related normal parents The resemblance with Cockayne's syndrome is discusced.
R. A. Pfeiffer, K. D. Bachmann
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