Short rib-polydactyly syndrome: More evidence of a continuous spectrum

Kyriake Sarafoglou; Edmund F. Funai; Nancy Fefferman; Laura Zajac; Nancy Geneiser; Michael J. Paidas; Alba Greco; Robert Wallerstein

doi:10.1034/j.1399-0004.1999.560209.x

Short rib-polydactyly syndrome: More evidence of a continuous spectrum

Kyriake Sarafoglou, Edmund F. Funai, Nancy Fefferman, Laura Zajac, Nancy Geneiser, Michael J. Paidas, Alba Greco, Robert Wallerstein

Pediatric Endocrinology

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

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)
Pages (from-to)	145-148
Number of pages	4
Journal	Clinical Genetics
Volume	56
Issue number	2
DOIs	https://doi.org/10.1034/j.1399-0004.1999.560209.x
State	Published - 1999

Keywords

Prenatal diagnosis
Short rib-polydactyly syndrome
Skeletal dysplasia
Variable expressivity

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10.1034/j.1399-0004.1999.560209.x

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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.",

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author = "Kyriake Sarafoglou and Funai, {Edmund F.} and Nancy Fefferman and Laura Zajac and Nancy Geneiser and Paidas, {Michael J.} and Alba Greco and Robert Wallerstein",

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T2 - More evidence of a continuous spectrum

AU - Sarafoglou, Kyriake

AU - Funai, Edmund F.

AU - Fefferman, Nancy

AU - Zajac, Laura

AU - Geneiser, Nancy

AU - Paidas, Michael J.

AU - Greco, Alba

AU - Wallerstein, Robert

PY - 1999

Y1 - 1999

N2 - 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.

AB - 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.

KW - Prenatal diagnosis

KW - Short rib-polydactyly syndrome

KW - Skeletal dysplasia

KW - Variable expressivity

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JF - Clinical Genetics

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ER -

Short rib-polydactyly syndrome: More evidence of a continuous spectrum

Abstract

Keywords

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