Infantile hemangioendothelioma of the liver in patient with interstitial deletion of chromosome 6q: report of an autopsy case

Am J Med Genet. 1989 Nov;34(3):325-9. doi: 10.1002/ajmg.1320340306.

Abstract

Here we report an infantile hemangioendothelioma of the liver that developed in a 6 month-old boy with an interstitial deletion of chromosome 6q. His clinical manifestations included developmental delay, feeding problems, and multiple anomalies including microcephaly, hypertelorism, apparently low set abnormal ears, prominent nasal bridge, cubitus valgus, overwrapping of fingers, cryptorchidism, and micropenis. He died abruptly at age 27 weeks from a perforating duodenal ulcer. Autopsy demonstrated atrial septal defect, microencephaly, and thymic atrophy. A solitary small tumor was found in the liver and diagnosed histologically as the infantile hemangioendothelioma, type 1. This is the first report of a del(6)q with infantile hemangioendothelioma.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Aberrations / genetics*
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 6 / ultrastructure*
  • Duodenal Ulcer / complications
  • Face / abnormalities
  • Genitalia, Male / abnormalities
  • Hemangioendothelioma / genetics*
  • Humans
  • Infant, Newborn
  • Liver Neoplasms / genetics*
  • Male
  • Microcephaly / genetics
  • Peptic Ulcer Perforation / complications