Recurrent short rib-polydactyly syndrome with unusual associations
| Autor: | Scott W. Wise, Betty Shindel |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Short rib – polydactyly syndrome Polydactyly business.industry Cystic hygroma Dwarfism Anatomy medicine.disease Osteochondrodysplasia medicine Radiology Nuclear Medicine and imaging Choroid plexus Cyst Trisomy business |
| Zdroj: | Journal of Clinical Ultrasound. 27:143-146 |
| ISSN: | 1097-0096 0091-2751 |
| DOI: | 10.1002/(sici)1097-0096(199903/04)27:3<143::aid-jcu7>3.0.co;2-r |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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