Prenatal sonographic diagnosis of short rib-polydactyly syndrome type II, Majewski type

Benacerraf, Beryl R.

doi:10.7863/jum.1993.12.9.552

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Cited by 14 publications

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“…Short-rib polydactyly syndrome is a very rare congenital anomaly that is generally classified into four subtypes, although some authors recognize up to seven types, and it is inherited as an autosomal recessive disease 1 . Prenatal diagnosis has been reported in the literature both by fetoscopy 2 and by conventional two-dimensional (2D) sonography [3][4][5][6][7][8][9][10][11] , more frequently in high-risk patients.…”

Section: Introductionmentioning

confidence: 99%

Three‐dimensional ultrasound evaluation of short‐rib polydactyly syndrome type II in the second trimester: a case report

Viora

Sciarrone

Bastonero

et al. 2002

Ultrasound in Obstet & Gyne

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Prenatal diagnosis of short-rib polydactyly syndrome is possible and has been reported in literature, but a precise ultrasound diagnosis is not easy. We report a case in which three-dimensional ultrasound was used in the evaluation of the disorder. The contribution and potential application of three-dimensional sonography in the prenatal diagnosis of short-rib polydactyly syndrome and other fetal skeletal malformations is discussed.

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