Recurrent short rib-polydactyly syndrome with unusual associations

J Clin Ultrasound. 1999 Mar-Apr;27(3):143-6. doi: 10.1002/(sici)1097-0096(199903/04)27:3<143::aid-jcu7>;2-r.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain Neoplasms / complications
  • Brain Neoplasms / diagnostic imaging*
  • Choroid Plexus / diagnostic imaging*
  • Choroid Plexus / pathology
  • Chromosome Aberrations / diagnosis
  • Chromosome Disorders
  • Chromosomes, Human, Pair 18
  • Female
  • Humans
  • Lymphangioma, Cystic / complications
  • Lymphangioma, Cystic / diagnostic imaging*
  • Pregnancy
  • Recurrence
  • Short Rib-Polydactyly Syndrome / complications
  • Short Rib-Polydactyly Syndrome / diagnostic imaging*
  • Trisomy
  • Ultrasonography, Prenatal*