Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency
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چکیده
منابع مشابه
Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency.
Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, deafness, skeletal and neurologic abnormalities. We describe here an 18 year old boy with Cockayne syndrome who had, in addition to the typica...
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Morning Glory Syndrome (MGS) is a rare congenital malformation of the optic nerve that is caused by a failure of the closure of the choroidal embryonic fissure . The syndrome is usually seen in association with midline in utero cranial defects, such as transsphenoidal and basal encephaloceles. Although MGS usually presents as an isolated ocular finding, it can be associated with endocrinologic...
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A 4-year-old female with Cockayne syndrome presented for cataract extraction under general anesthesia. She was thin and frail; her neck, epiglottis and larynx were stiff; she was deaf and blind; and she could not speak, sit unaided, or perspire. At the time of her admission, she weighed 5.5 kg. Cockayne syndrome is a disease of childhood characterized by mental retardation and premature aging. ...
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ژورنال
عنوان ژورنال: Journal of Korean Medical Science
سال: 1994
ISSN: 1011-8934,1598-6357
DOI: 10.3346/jkms.1994.9.1.74