Results 111 to 120 of about 4,495 (156)
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Pediatrics, 1960
A syndrome of heredo-familial dwarfism with multiple disturbances of growth and development is described in three of a family of five children. Since the original description by Cockayne 24 years ago, only one other family and one isolated case similarly affected, have been recorded.
William B. Macdonald +2 more
exaly +2 more sources
A syndrome of heredo-familial dwarfism with multiple disturbances of growth and development is described in three of a family of five children. Since the original description by Cockayne 24 years ago, only one other family and one isolated case similarly affected, have been recorded.
William B. Macdonald +2 more
exaly +2 more sources
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome
Pediatric Neurology, 2023 Ursula Knirsch, , Shehla Mohammed
exaly +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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,
R M, Kennedy, V D, Rowe, J J, Kepes
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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,
R M, Kennedy, V D, Rowe, J J, Kepes
openaire +2 more sources
The neuropathy of Cockayne syndrome
Acta Neuropathologica, 1983We 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.
A, Vos +5 more
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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.
Rajan, Bhojwani +3 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
openaire +1 more source