Short rib-polydactyly syndrome

Arch Gynecol Obstet. 2005 Jul;272(2):173-5. doi: 10.1007/s00404-004-0696-9. Epub 2004 Dec 17.


Introduction: Short rib-polydactyly syndrome (SRPD) is an autosomal recessive, lethal skeletal dysplasia. It is characterized by short limb dwarfism, short ribs with thoracic hypoplasia, polydactyly, and multiple anomalies of major organs.

Case report: We report a case of SRPD subtype II (Majewski) that was detected in the 36th week of gestation, showing hydropic change, narrow thorax, shortened limbs, protuberant abdomen, micromelia, polydactyly and extremely low set ears, depressed nasal bridge, and cleft palate. The family was informed of the fatal outcome of the condition. Delivery was induced, and the baby died just after the birth.

Discussion: Prenatal diagnosis is established with postmortem radiographic and pathologic examinations.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Pregnancy
  • Short Rib-Polydactyly Syndrome / diagnosis*
  • Short Rib-Polydactyly Syndrome / diagnostic imaging
  • Short Rib-Polydactyly Syndrome / pathology
  • Ultrasonography, Prenatal*