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Short rib‐polydactyly syndrome: more evidence of a continuous spectrum
Author(s) -
Sarafoglou Kyriake,
Funai Edmund F,
Fefferman Nancy,
Zajac Laura,
Geneiser Nancy,
Paidas Michael J,
Greco Alba,
Wallerstein Robert
Publication year - 1999
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.1999.560209.x
Subject(s) - polydactyly , medicine , phenotype , fetus , anatomy , dysostosis , broad spectrum , expressivity , genetics , congenital disease , biology , pregnancy , gene , chemistry , combinatorial chemistry
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.