| 216411 | ||||||
| COCKAYNE SYNDROME, TYPE III | ||||||
| Alternative titles; symbols | ||||||
| CS, TYPE C | ||||||
| Clinical Synopsis | ||||||
| TEXT | ||||||
| For a clinical description of Cockayne syndrome, see 216400. Czeizel and Marchalko (1995) used the designation Cockayne syndrome type III for the disorder in a teenaged girl with characteristic somatic manifestations of Cockayne syndrome, particularly a cachectic phenotype. She was not dwarfed (stature was 158 cm) but weighed only 30 kg. Her appearance was normal at birth and during the first postnatal years. Loss of adipose tissue occurred after a third year, resulting in thin, atrophic skin, unusual facies with a slender nose and moderately sunken eyes, and a precociously senile appearance. Bilateral impaired hearing of nerve type occurred from 13 years of age with progression. Ocular abnormalities, starting with bilateral corneal infiltrates and band keratopathy, were noted from the age of 14. Menarche occurred at age 13 years with regular menstrual cycles following. The Wechsler test showed an IQ of 128. Werner syndrome (277700) was excluded on the basis of lack of scleroderma-like skin changes. Lack of cataract and the presence of sensitivity to sunlight and bilateral impaired hearing were also noted. | ||||||
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