Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?

Am J Med Genet. 2000 Feb 28;90(5):351-5. doi: 10.1002/(sici)1096-8628(20000228)90:5<351::aid-ajmg1>3.0.co;2-k.

Abstract

We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, unilateral renal agenesis, and a common dorsal mesentery. Results of high-resolution karyotyping were normal in the malformed fetus and his affected mother. Furthermore, several spontaneous abortions of male fetuses had occurred in this pedigree. To our knowledge, a similar association has not been described previously. It could represent a new X-linked dominant MCA syndrome, or an autosomal dominant condition with severe expression limited to males.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abortion, Spontaneous / genetics
  • Adult
  • Female
  • Fetus / abnormalities
  • Humans
  • Male
  • Pedigree
  • Pregnancy
  • Radiography
  • Radius / abnormalities*
  • Radius / diagnostic imaging
  • Syndactyly
  • Syndrome
  • Synostosis / genetics*
  • Ulna / abnormalities*
  • Ulna / diagnostic imaging
  • X Chromosome / genetics*