| Literature DB >> 9152846 |
H Arboleda1, L Quintero, E Yunis.
Abstract
Wiedemann-Rautenstrauch (WR) syndrome is known as a neonatal progeroid syndrome, with only few published case reports. We describe three additional patients, two of them sibs, showing the clinical features of WR syndrome. Skeletal abnormalities are reported and assays of hormones and lipids are presented in one patient. Disturbance in bone maturation and lipid and hormone metabolism appear to be involved in this neonatal progeroid syndrome.Entities:
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Year: 1997 PMID: 9152846 PMCID: PMC1050956 DOI: 10.1136/jmg.34.5.433
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318