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Recurrent short rib–polydactyly syndrome with unusual associations
Author(s) -
Shindel Betty,
Wise Scott
Publication year - 1999
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/(sici)1097-0096(199903/04)27:3<143::aid-jcu7>3.0.co;2-r
Subject(s) - medicine , polydactyly , anatomy , dysostosis , congenital disease , rib cage , surgery
Short rib–polydactyly syndrome (SRPS) is manifested by short‐limb dwarfism, short ribs with thoracic hypoplasia, and polydactyly. This inheritable syndrome has distinct imaging findings on prenatal sonography, and ancillary findings on both pre‐ and postnatal assessments may enable individual cases to be classified into 1 of 4 subtypes. In this report, we present a recurrent case of SRPS that was associated with a cystic hygroma and choroid plexus cysts. Although cystic hygromas are not uncommonly seen in skeletal dysplasias, the presence of concomitant cystic hygroma and choroid plexus cysts suggests a chromosomal abnormality such as trisomy 18. © 1999 John Wiley & Sons, Inc. J Clin Ultrasound 27:143–146, 1999.