J Med Genet 24:715-716 doi:10.1136/jmg.24.11.715
  • Research Article

Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation.

  1. I D Young,
  2. K Simpson
  1. Department of Child Health, Leicester Royal Infirmary.


      We present a female infant with (1) abnormal facies: microcephaly, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, micrognathia; (2) congenital heart abnormalities: large atrial and ventricular septal defects; (3) congenital hypothyroidism; (4) severe global retardation.