Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening. A case report

Prenat Diagn. 1995 Jul;15(7):665-8. doi: 10.1002/pd.1970150713.

Abstract

The prenatal diagnosis of skeletal dysplasias is often initiated by the finding of a shortened extremity during a routine sonographic examination. Second-trimester diagnosis of these anomalies allows the couple to consider the option of terminating a pregnancy when a lethal anomaly is detected. A 21-year-old Bedouin woman underwent routine ultrasonographic screening at 20 weeks' gestation. Severe micromelia, a narrow thorax with shortened ribs, and postaxial polydactyly were detected. The patient delivered a male dwarf at 20 weeks' gestation following prostaglandin induction of labour for a diagnosis of short-rib polydactyly syndrome type III. The prenatal ultrasonographic diagnosis of short-rib polydactyly syndrome type III was made at 20 weeks' gestation, allowing termination of the pregnancy. A proper sonographic approach to skeletal dysplasias allows both early detection and differentiation between lethal and non-lethal anomalies.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Fingers / abnormalities
  • Fingers / embryology
  • Humans
  • Male
  • Pregnancy
  • Ribs / abnormalities
  • Ribs / embryology
  • Short Rib-Polydactyly Syndrome / diagnostic imaging*
  • Ultrasonography, Prenatal*