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

Authors: Sarafoglou, Kyriake1; Funai, Edmund F2; Fefferman, Nancy3; Zajac, Laura1; Geneiser, Nancy3; Paidas, Michael J2; Greco, Alba4; Wallerstein, Robert1

Source: Clinical Genetics, Volume 56, Number 2, August 1999 , pp. 145-148(4)

Publisher: Blackwell Publishing

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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.

Keywords: prenatal diagnosis; short rib-polydactyly syndrome; skeletal dysplasia; variable expressivity

Document Type: Research article

DOI: 10.1034/j.1399-0004.1999.560209.x

Affiliations: 1: Human Genetics Program, Department of Pediatrics, 2: Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, 3: Department of Radiology, 4: Department of Pathology, New York University School of Medicine, New York, NY, USA

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