, Volume 272, Issue 2, pp 173-175
Date: 17 Dec 2004

Short rib-polydactyly syndrome

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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.