| Literature DB >> 3777024 |
Abstract
The syndrome was characterized by striking hypoplasia of nails, malformations of hands and feet, curly hair, small lower teeth and seizures. There were no similarly affected relatives. Death occurred at 31 months with the patient apparently in status epilepticus with terminal hepatorenal syndrome.Entities:
Mesh:
Year: 1986 PMID: 3777024 DOI: 10.1002/ajmg.1320250213
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299