Transient progeroid phenotype and lipodystrophy in mosaic polyploidy

Judit Kárteszi, György Kosztolányi, Marta Czakó, Kinga Hadzsiev, Éva Morava

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

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. Chromosomal studies on peripheral leukocytes showed a normal karyotype. In view of an abnormal lipid distribution and lipodystrophy, metabolic studies for congenital disorders of glycosylation have been performed with normal results. At the age of 2 years 6 months the progeroid signs were no longer present, and the patient had a striking improvement in her psychomotor development. As there are overlapping features in Wiedemann-Rautenstrauch syndrome and in mosaic polyploidy, including psychomotor retardation, reduced peripheral muscle bulk, arachnodactyly and lipodystrophy, chromosome analysis was performed in the fibroblast culture of our patient. A mosaic triploidy/tetraploidy was detected in 60% and 14% of the cells, respectively. We therefore recommend chromosome analysis of fibroblasts from patients with a neonatal presentation of progeroid features and lipodystrophy.

Original languageEnglish
Pages (from-to)29-31
Number of pages3
JournalClinical Dysmorphology
Volume15
Issue number1
DOIs
Publication statusPublished - Jan 1 2006

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Keywords

  • Lipodystrophy
  • Mosaic polyploidy
  • Progeria
  • Wiedemann-Rautenstrauch syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

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