A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate

J Inherit Metab Dis. 2005;28(6):1165-6. doi: 10.1007/s10545-005-0075-0.

Abstract

Pearson syndrome is a rare multiorgan mitochondrial disorder that causes substantial disability and usually leads to premature death. We describe an infant with Pearson syndrome who showed, in addition to the typical features of the syndrome, cleft lip and palate and hypospadias.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Cleft Lip / complications
  • Cleft Lip / genetics*
  • Cleft Palate / complications
  • Cleft Palate / genetics*
  • DNA, Mitochondrial / metabolism
  • Gene Deletion
  • Humans
  • Hypospadias / complications
  • Hypospadias / genetics*
  • Infant
  • Male
  • Metabolism, Inborn Errors / metabolism
  • Mitochondrial Diseases / complications
  • Mitochondrial Diseases / genetics*
  • Psychomotor Disorders / complications
  • Psychomotor Disorders / genetics
  • Syndrome

Substances

  • DNA, Mitochondrial