Facial and skeletal malformations, mental retardation, aganglionosis, and neurogenic muscle weakness: A variant of Niikawa-Kuroki syndrome or a new syndrome?

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Abstract

We report a 10-year-old boy with multiple congenital anomalies/mental retardation syndrome, who also presented with aganglionosis and neurogenic muscle weakness. Some phenotypic manifestations of our patient overlap with those observed in the Niikawa-Kuroki syndrome; however, the hypothesis of a new distinct entity, with simultaneous involvement of the central and peripheral nervous system, is considered.

Original languageEnglish
Pages (from-to)296-298
Number of pages3
JournalJournal of Child Neurology
Volume16
Issue number4
Publication statusPublished - Apr 2001

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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