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short rib-polydactyly syndrome
Pathology:
- lethal skeletal dysplasia
Clinical manifestations:
- markedly short ribs
- short limbs
- polydactyly
- narrow thorax with hypoplastic lungs
- extreme polysyndactyly
- dysproportionate dwarfism
- median cleft lip & palate
- a ventriculoseptal defect
- cystic kidneys
Radiology:
- shortened & horizontal ribs
- squared scapulae
- elevated clavicles with lateral kinking
- normal spine & pelvis configuration
- shortening of the bones of all four extremities
- extreme reduction of tibial bone length
Specific
short rib-polydactyly syndrome type 2
General
skeletal dysplasia
References
OMIM :accession 263520