Archives of Gynecology and Obstetrics

, Volume 272, Issue 2, pp 173–175

Short rib-polydactyly syndrome

  • M. M. Naki
  • D. Gür
  • E. Zemheri
  • C. Tekcan
  • F. Kanadıkırık
  • R. Has
Case Report

DOI: 10.1007/s00404-004-0696-9

Cite this article as:
Naki, M.M., Gür, D., Zemheri, E. et al. Arch Gynecol Obstet (2005) 272: 173. doi:10.1007/s00404-004-0696-9

Abstract

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.

Keywords

Short rib-polydactyly syndrome Majewski 

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • M. M. Naki
    • 1
  • D. Gür
    • 2
  • E. Zemheri
    • 2
  • C. Tekcan
    • 1
  • F. Kanadıkırık
    • 1
  • R. Has
    • 3
  1. 1.Department of Obstetrics and GynecologySSK Göztepe Training HospitalÍstanbulTurkey
  2. 2.Department of PathologySSK Göztepe Training HospitalÍstanbulTurkey
  3. 3.Department of Obstetrics and Gynecology, Faculty of MedicineUniversity of ÍstanbulÍstanbulTurkey
  4. 4.Küçükyalı/ÍstanbulTurkey

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