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Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.
Mortier GR, Lachman RS, Bocian M, Rimoin DL. Mortier GR, et al. Am J Med Genet. 1996 Feb 2;61(4):310-9. doi: 10.1002/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3>3.0.CO;2-Y. Am J Med Genet. 1996. PMID: 8834041 Review.
To further delineate and classify those forms of short trunk dwarfism characterized by multiple vertebral segmentation defects, we analyzed 26 new patients and reviewed 115 described in the literature. ...
To further delineate and classify those forms of short trunk dwarfism characterized by multiple vertebral segmentation …
Neonatal lethal dwarfism with distinct skeletal malformations--a separate entity?
Rosendahl K, Maurseth K, Olsen ØE, Halvorsen OJ, Gjelland K, Engebretsen L. Rosendahl K, et al. Pediatr Radiol. 2001 Sep;31(9):663-8. doi: 10.1007/s002470100520. Pediatr Radiol. 2001. PMID: 11512011 Review.
We describe a case of neonatal lethal dwarfism characterised by short trunk, short, stick-like tubular bones, deficient ossification of the axial skeleton and broad, sclerotic horizontal ribs. ...A literature research did not reveal similar case …
We describe a case of neonatal lethal dwarfism characterised by short trunk, short, stick-like tubular bo …