Fetus with Casamassima-Morton-Nance syndrome and an inherited (6;9) balanced translocation

Am J Med Genet. 1998 Dec 28;80(5):514-7. doi: 10.1002/(sici)1096-8628(19981228)80:5<514::aid-ajmg15>3.0.co;2-0.

Abstract

We report on a fetus with cranio-facial anomalies, a narrow thorax, imperforate anus with cloacal cyst, and a genitourinary malformation with absent uterus, vagina, and external genitalia. Major thoracic defects were seen on roentgenographic examination, including absent vertebrae and ribs, a supernumerary vertebra, a hemivertebra, and rib fusion. These findings are compatible with Casamassima-Morton-Nance syndrome. The patient was the carrier of a translocation t(6;9)(p12;q12), inherited from the mother. Although the occurrence of this rearrangement may be coincidental, it may also indicate a possible locus for this autosomal recessive thoracic dysplasia.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anus, Imperforate / genetics
  • Chromosomes, Human, Pair 6 / genetics*
  • Chromosomes, Human, Pair 9 / genetics*
  • Craniofacial Abnormalities / genetics
  • Female
  • Humans
  • Pregnancy
  • Thorax / abnormalities
  • Translocation, Genetic*
  • Urogenital Abnormalities / genetics