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Quoted phrase not found in phrase index: "Neonatal short-trunk short stature"
Page 1
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. ...Spondylothoracic dysostosis shows considerable clinica …
To further delineate and classify those forms of short trunk dwarfism characterized by multiple vertebral segmentation …
Axial spondylometaphyseal dysplasia: additional reports.
Suzuki S, Kim OH, Makita Y, Saito T, Lim GY, Cho TJ, Al-Swaid A, Alrasheed S, Sadoon E, Miyazaki O, Nishina S, Superti-Furga A, Unger S, Fujieda K, Ikegawa S, Nishimura G. Suzuki S, et al. Am J Med Genet A. 2011 Oct;155A(10):2521-8. doi: 10.1002/ajmg.a.34192. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910225
We report here on the clinical and radiological manifestations in seven affected individuals from five families (three sporadic cases and two familial cases). Based on our observations and Isidor's report, the clinical and radiological hallmarks of axial SMD can be defined …
We report here on the clinical and radiological manifestations in seven affected individuals from five families (three sporadic cases and tw …
Achondrogenesis: new nosology with evidence of genetic heterogeneity.
Whitley CB, Gorlin RJ. Whitley CB, et al. Radiology. 1983 Sep;148(3):693-8. doi: 10.1148/radiology.148.3.6878687. Radiology. 1983. PMID: 6878687
Achondrogenesis is a phenotypically diverse group of lethal osteochondrodysplasias characterized by severe micromelia, a short trunk, and a disproportionately large cranium. Cases of classic achondrogenesis Type I (Parenti-Fraccaro), and classic achondrogenesis Type …
Achondrogenesis is a phenotypically diverse group of lethal osteochondrodysplasias characterized by severe micromelia, a short tru …