New MCA/MR syndrome with generalized hypotonia, congenital hydronephrosis, and characteristic face

Am J Med Genet. 1997 Jan 31;68(3):347-9.

Abstract

We have observed a newly recognized syndrome in two unrelated Japanese patients. Manifestations include severe mental retardation, growth failure, generalized floppiness, congenital hydronephrosis, cardiac anomalies, cleft palate, and characteristic face. To date, caused genesis is unknown.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Child, Preschool
  • Face / abnormalities*
  • Female
  • Humans
  • Hydronephrosis / congenital*
  • Infant
  • Male
  • Muscle Hypotonia / congenital*
  • Syndrome