[Partial deletion of the short arm of chromosome 4 (the Wolf-Hirschhorn syndrome) with reference to the neurological and electroencephalographic aspects]

Pediatr Med Chir. 1994 Jul-Aug;16(4):393-8.
[Article in Italian]

Abstract

We describe a case of Wolf-Hirschhorn syndrome (partial deletion of the short arm of chromosome 4). The syndrome is characterized by mental and growth retardation and characteristic facial dysmorphism. The fetus was karyotyped for severe intrauterine growth retardation diagnosed on routine ultrasound. High resolution chromosomal analysis of infant and parents showed "de novo" deletion. Very interesting in our case are ictal phenomena and neurological development.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / psychology
  • Chromosome Aberrations / diagnosis*
  • Chromosome Aberrations / psychology
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 4*
  • Electrocardiography
  • Electroencephalography*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Neurologic Examination
  • Neuropsychology
  • Syndrome