Abstract
We report a fetus with radiological features of the four established types of short rib-polydactyly syndrome (SRPS). The phenotype of this fetus supports the previously suggested hypothesis that the different subtypes of the short rib and polydactyly syndrome are not single entities, but rather, part of a continuous spectrum with variable expressivity.
Original language | English (US) |
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Pages (from-to) | 145-148 |
Number of pages | 4 |
Journal | Clinical Genetics |
Volume | 56 |
Issue number | 2 |
DOIs | |
State | Published - 1999 |
Keywords
- Prenatal diagnosis
- Short rib-polydactyly syndrome
- Skeletal dysplasia
- Variable expressivity