Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited

S. B. Wortmann, R. Rodenburg, B. Schwahn, J. A.M. Smeitink, E. Morava

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

We report on a patient with congenital distal limb contractures, characteristic face, prominent metopic sutures, narrow forehead, severe psychomotor and growth retardation, white matter lesions and failure to thrive. The child has many overlapping features with those reported previously by Chitayat. We suggest that the central nervous anomalies are responsible for the congenital contractures in Chitayat syndrome.

Original languageEnglish (US)
Pages (from-to)119-123
Number of pages5
JournalGenetic Counseling
Volume18
Issue number1
StatePublished - May 3 2007

Keywords

  • Distal contractures
  • Mental and growth retardation
  • Mitochondrial
  • Periventricular lesions
  • Pyruvate oxidation
  • Trigonocephaly

ASJC Scopus subject areas

  • Genetics(clinical)

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