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Diagnosis of short rib polydactyly syndrome type IV (Beemer–Langer syndrome) with cystic hygroma: A case report

✍ Scribed by Kishor B. Taori; Kedar G. Sharbidre; Vijay Krishnan; Nischal Kundargi; Bipin R. Kulkarni; Vinay Satkar; Sneha Bopche

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
142 KB
Volume
37
Category
Article
ISSN
0091-2751

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✦ Synopsis

Abstract

Short rib polydactyly syndrome (SRPS) is a very rare congenital autosomal recessive inherited disease, classified into four subtypes. It has distinct imaging findings on prenatal sonography (US) and ancillary findings on both pre‐ and postnatal examinations may help classify individual cases into one of four subtypes. We report the US findings in a case of SRPS type IV (Beemer–Langer dysplasia) in a male fetus with multiple congenital anomalies, including cystic hygroma. The postnatal ultrasound, radiographic, and postmortem examinations helped to classify the SRPS as type IV. We believe this is the first documented case associating cystic hygroma and polydactyly. © 2009 Wiley Periodicals, Inc. J Clin Ultrasound 2009

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A male fetus with short rib (polydactyly) syndrome, Beemer-Langer type was aborted at 30 weeks' gestation because of abnormalities visualized on sonography. This is the first documented case with polydactyly in this recently defined entity. The clinical, radiological, and pathological findings, espe