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Non-Majewski short rib-polydactyly syndrome

✍ Scribed by Sillence, David O. ;Herrmann, J. ;Optiz, John M.


Publisher
John Wiley and Sons
Year
1980
Tongue
English
Weight
364 KB
Volume
7
Category
Article
ISSN
0148-7299

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We describe a baby with external and internal anomalies of the Majewski form of the short rib-polydactyly (SRP) syndromes. Previously unreported abnormal vertebral bodies, delayed ossification of the sternum and fibulae, and a diencephalic hamartoma are noted. These abnormalities and minimal histolo

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Short rib-polydactyly syndrome (SRPS) is manifested by short-limb dwarfism, short ribs with thoracic hypoplasia, and polydactyly. This inheritable syndrome has distinct imaging findings on prenatal sonography, and ancillary findings on both pre- and postnatal assessments may enable individual cases

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## Abstract We present a case of short rib (polydactyly) syndrome in which the diagnosis was made prenatally by ultrasound examination. The more specific diagnosis of short rib (polydactyly) syndrome type III was made on the basis of findings on radiographs obtained at birth. The sonographic and ra