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Recurrent short rib-polydactyly syndrome with unusual associations

✍ Scribed by Shindel, Betty; Wise, Scott

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
286 KB
Volume
27
Category
Article
ISSN
0091-2751

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✦ Synopsis

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.

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## Abstract We present a case of short rib (polydactyly) syndrome in which the diagnosis was made prenatally by ultrasound examination. The more specific diagnosis of short rib (polydactyly) syndrome type III was made on the basis of findings on radiographs obtained at birth. The sonographic and ra