Early prenatal diagnosis of short rib-polydactyly (SRP) syndrome type I (Majewski) by ultrasound in a case at risk |
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| Authors: | U Gembruch M Hansmann H J Födisch |
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| Institution: | 1. Abt. für Pränatale Diagnostik und Therapie, Universitäts-Frauenklinik, Sigmund-Freud-Str. 25, D-5300 Bonn-Venusberg, West Germany;2. Institut für Kinderpathologie der Universität Bonn, Sigmund-Freud-Str. 25, D-5300 Bonn-Venusberg, West Germany |
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| Abstract: | Short rib-polydactyly (SRP) syndrome Type I was diagnosed accurately in an at-risk fetus at 16 weeks of gestation by real-time sonography. The most important findings were a narrow thorax, significant shortening of the long bones, particularly the tibiae, and–by directed search–the polydactyly. |
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| Keywords: | Short rib-polydactyly (SRP) syndrome Type I (Majewski) Skeletal dysplasia Prenatal diagnosis Ultrasonography |
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