Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation

Am J Med Genet. 1999 May 7;84(1):8-11. doi: 10.1002/(sici)1096-8628(19990507)84:1<8::aid-ajmg2>3.0.co;2-2.

Abstract

Young-Simpson syndrome is a rare congenital disorder, characterized by congenital hypothyroidism, congenital heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation. We describe the cases of a 5-year-old boy and a 7-year-old girl with a similar constellation of symptoms and compared them with previously reported patients.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / abnormalities
  • Child
  • Child, Preschool
  • Congenital Hypothyroidism*
  • Facies*
  • Female
  • Growth Disorders / congenital
  • Heart Diseases / congenital*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Japan
  • Magnetic Resonance Imaging
  • Male
  • Syndrome*