Cockayne syndrome in a family.
Cockayne 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, and photosensitivity. The younger sibling exhibited short stature, microcephaly, a beaked nose and malformed ears, spasticity, photosensitivity, pigmented degeneration of the retina, and psychomotor retardation at the age of six years. Intracranial calcification and the absence of a brain stem-evoked potential were also noted. Testing her skin fibroblasts, which showed a moderate UV sensitivity and a severe deficiency of transcription-coupled repair established the diagnosis of Cockayne syndrome. Genetic counseling was offered for the family.
Chien
Yin-Hsiu
YH
Department of Pediatrics, National Taiwan University Hospital, Taipei.
Chou
Hung-Chieh
HC
Hwu
Wuh-Liang
WL
D002648:Child; D003057:Cockayne Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D011296:Prenatal Diagnosis