1 results match your criteria: "Hungary University of Nijmegen[Affiliation]"
Transient progeroid phenotype and lipodystrophy in mosaic polyploidy.
Clin Dysmorphol
January 2006
University of Pécs, Medical Faculty, Department of Medical Genetics and Child Development, Pécs, Hungary University of Pécs, MTA-PTE Clinical Genetics Research Group, Pécs, Hungary University of Nijmegen, Department of Pediatrics, Nijmegen.
Wiedemann-Rautenstrauch syndrome is a rare disorder with a progressive course and early lethality. Severe mental and growth retardation, muscle hypotonia, a progeroid face, wrinkled skin, relative macrocephaly with late closure of the anterior fontanel, arachnodactyly and congenital heart defects are also typical. We report on a female infant with all the characteristic features of this syndrome after birth.
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