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 b...
Topics
- Abnormalities, Multiple
- DNA, Mitochondrial
- Digestive System Abnormalities
- Diseases in Twins
- Female
- Genes, Lethal
- Genetic Linkage
- Humans
- Infant, Newborn
- Liver
- Male
- Pedigree
- Phenotype
- Progeria
- Syndrome
- Twins, Monozygotic
- Urogenital Abnormalities
- X Chromosome