XK aprosencephaly and anencephaly in sibs

Am J Med Genet. 1988 Mar;29(3):523-8. doi: 10.1002/ajmg.1320290308.

Abstract

Recent studies have suggested a causal and pathogenetic relationship between holoprosencephaly and anencephaly. In support of the proposed relationship we report a sibship that includes anencephalic male twins and a female infant with a severe form of alobar holoprosencephaly, radial aplasia, and oligodactyly. The upper limb and brain malformations are considered to represent aprosencephaly syndrome. The coexistence of anencephaly and aprosencephaly within a sibship suggests that XK aprosencephaly syndrome may be an autosomal recessive disorder.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anencephaly / genetics*
  • Brain / abnormalities*
  • Face / abnormalities*
  • Female
  • Humans
  • Infant, Newborn
  • Pregnancy
  • Prenatal Diagnosis
  • Skull / abnormalities*
  • Syndrome
  • Ultrasonography