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JAVADZADEH, Mohsen
Iranian journal of child neurology, 10/2014, Letnik: 8, Številka: 4Journal Article
Cockayne syndrome is a rare autosomal recessive disease, with heterogeneous presentation which involves many organ systems and is characterized by failure to thrive, microcephaly, pigmentary retinopathy, and photo-sensitivity. The face of the patients resembles the face of the birds. There are 3 subtypes of this disorder. Type I, or classic Cockayne syndrome, presents in childhood with characteristic facies and somatic features that occur late in the first decade of life. Type II, or severe congenital or neonatal form, presents at birth with accelerated facial and somatic features. Type III Cockayne syndrome has the mildest symptoms of the three types and appears later in childhood. Medical care for Cockayne syndrome patients includes photo-protection with sunscreens and clothing. The prognosis for Cockayne syndrome is poor, with death occurring in the second or third decade of life. A genetic counselor should educate the parents of the Cockayne syndrome patient.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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