Article
A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features.
Journal of medical genetics - 1 Jun 1997
Delatycki M B, Cleary M A, Bankier A, McDougall P N, Ahluwalia J S, Chow C W, Cooke-Yarborough C M
Abstract excerpt
Twin brothers and their maternal uncle with a previously undescribed neonatal progeroid syndrome are presented. In addition to progeroid features, they had pseudo-obstruction of the urinary and gastrointestinal tracts, severe leucocytosis, liver dysfunction, and low complex III and IV in muscle but not in liver. Previously described neonatal progeroid syndromes and syndromes featuring pseudo-obstruction are...
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