Two brothers with varying combinations of severe developmental delay, epilepsy, microcephaly, tetralogy of Fallot and hydronephrosis

Clin Dysmorphol. 1999 Jan;8(1):15-8.


We report on a sib pair who manifest a pattern of anomalies which appears to be unique and for which we are unable to provide a cytogenetic or molecular genetic explanation. While a number of their physical features are distinct, their overall appearance and pattern of neurological impairment suggest they suffer from the same genetic disorder.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Abnormalities, Multiple / physiopathology
  • Developmental Disabilities / pathology*
  • Electroencephalography
  • Epilepsy / pathology*
  • Humans
  • Hydronephrosis / pathology*
  • Infant, Newborn
  • Male
  • Microcephaly / pathology*
  • Nuclear Family*
  • Tetralogy of Fallot / pathology*