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Diagnosis of short rib polydactyly syndrome type IV (Beemer–Langer syndrome) with cystic hygroma: A case report
Author(s) -
Taori Kishor B.,
Sharbidre Kedar G.,
Krishnan Vijay,
Kundargi Nischal,
Kulkarni Bipin R.,
Satkar Vinay,
Bopche Sneha
Publication year - 2009
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.20603
Subject(s) - cystic hygroma , polydactyly , medicine , prenatal diagnosis , lymphangioma , dysplasia , fetus , anatomy , pathology , pregnancy , genetics , biology
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