Short rib-polydactyly syndrome, Majewski type
✍ Scribed by Walley, Virginia M. ;Coates, Charles F. ;Gilbert, Joseph J. ;Valentine, G. Howard ;Davies, Eleanor M. ;Herrmann, Jürgen
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 493 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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 histologic abnormality at the chondro-osseous junction suggest that this syndrome may be heterogenous or more variable than previously known.
📜 SIMILAR VOLUMES
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
## 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