Opitz C syndrome and pseudohypoaldosteronism

Am J Med Genet. 1990 Dec;37(4):457-9. doi: 10.1002/ajmg.1320370405.

Abstract

The C syndrome of multiple congenital anomalies is described in a male infant with pseudohypoaldosteronism. The association of these 2 rare autosomal recessive conditions is discussed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Chromosomes, Human, Pair 4
  • Craniosynostoses / complications*
  • Facial Bones / abnormalities*
  • Genes, Dominant
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Intellectual Disability / complications
  • Male
  • Pseudohypoaldosteronism / complications*
  • Pseudohypoaldosteronism / genetics
  • Skull / abnormalities*
  • Syndactyly / complications
  • Syndrome