CVS-exposed limb deficiency defects with or without other birth defects: presentation of six cases born during a period of nine years

Am J Med Genet. 1996 Jun 14;63(3):447-53. doi: 10.1002/(SICI)1096-8628(19960614)63:3<447::AID-AJMG6>3.0.CO;2-O.

Abstract

We report on six cases with CVS-exposed limb-"reduction" defects born in our hospital during a period of 9 years (1986-1994). Four cases were associated with other birth defects. One had an oromandibular-limb hypogenesis syndrome with a cleft lip and jejunal atresia, a second had an oromandibular-limb hypogenesis (Hanhart) syndrome, a third had severe flexion deformity at the hips and hyperextension at the knees with meconium peritonitis and intestinal obstruction, and a fourth had Poland anomaly. Detailed clinical descriptions, prenatal diagnosis, photographs, and radiographs are presented. Our presentation adds to the information on severe limb abnormalities after CVS and suggests CVS-exposed limb defects may be associated with other birth defects resulting from vascular insufficiency or intrauterine compression. We suggest that detailed post-CVS sonographic followups are necessary for each CVS-exposed case to identify not only the possible fetal limb reduction, but also vascular disruption-type malformations and compressive deformities.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Abnormalities, Multiple
  • Adult
  • Chorionic Villi Sampling / adverse effects*
  • Chorionic Villi Sampling / statistics & numerical data
  • Cleft Lip
  • Female
  • Foot Deformities, Congenital
  • Hand Deformities, Congenital
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Limb Deformities, Congenital*
  • Male
  • Mandible / abnormalities
  • Pregnancy