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Results: 14

1.

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.

Am J Med Genet A. 2011 Oct;155A(10):2521-8. doi: 10.1002/ajmg.a.34192. Epub 2011 Sep 9.

PMID:
21910225
[PubMed - indexed for MEDLINE]
2.

Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.

Gripp KW, Johnson C, Scott CI Jr, Nicholson L, Bober M, Butler MG, Shaw L, Gorlin RJ.

Am J Med Genet A. 2008 Feb 15;146A(4):468-73. doi: 10.1002/ajmg.a.32155. Review.

PMID:
18203204
[PubMed - indexed for MEDLINE]
3.

Recessive omodysplasia: five new cases and review of the literature.

Elçioglu NH, Gustavson KH, Wilkie AO, Yüksel-Apak M, Spranger JW.

Pediatr Radiol. 2004 Jan;34(1):75-82. Epub 2003 Oct 18. Review.

PMID:
14566439
[PubMed - indexed for MEDLINE]
4.

SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature.

Cooper HA, Crowe J, Butler MG.

Am J Med Genet. 2000 May 1;92(1):33-9. Review.

PMID:
10797420
[PubMed - indexed for MEDLINE]
5.

Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases.

Currarino G, Birch JG, Herring JA.

Pediatr Radiol. 2000 Jan;30(1):14-24. Review.

PMID:
10663502
[PubMed - indexed for MEDLINE]
6.

Sponastrime dysplasia: five new cases and review of nine previously published cases.

Langer LO Jr, Beals RK, LaFranchi S, Scott CI Jr, Sockalosky JJ.

Am J Med Genet. 1996 May 3;63(1):20-7. Review. Erratum in: Am J Med Genet 1996 Oct 2;65(1):94.

PMID:
8723082
[PubMed - indexed for MEDLINE]
7.

Spondylometaphyseal dysplasia-Sedaghatian type.

Elçioglu N, Hall CM.

Am J Med Genet. 1998 Apr 13;76(5):410-4. Review.

PMID:
9556300
[PubMed - indexed for MEDLINE]
8.

Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report.

Hamel BC, Draaisma JM, Pinckers AJ, Boetes C, Hoppe RL, Ropers HH, Brunner HG.

Am J Med Genet. 1995 Apr 10;56(3):312-6. Review.

PMID:
7778598
[PubMed - indexed for MEDLINE]
9.

Spondylo-epi-metaphyseal dysplasia.

Cormier-Daire V.

Best Pract Res Clin Rheumatol. 2008 Mar;22(1):33-44. doi: 10.1016/j.berh.2007.12.009. Review.

PMID:
18328979
[PubMed - indexed for MEDLINE]
10.

Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.

MacDermot KD, Winter RM, Wigglesworth JS, Strobel S.

J Med Genet. 1991 Jan;28(1):10-7. Review.

PMID:
1999827
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review.

Galera MF, de Silva Patrício FR, Lederman HM, Porciúncula CG, Lopes Monlleo I, Brunoni D.

Pediatr Radiol. 1999 Nov;29(11):842-5. Review.

PMID:
10552065
[PubMed - indexed for MEDLINE]
12.

Progressive pseudorheumatoid dysplasia: report of a family and review.

el-Shanti HE, Omari HZ, Qubain HI.

J Med Genet. 1997 Jul;34(7):559-63. Review.

PMID:
9222963
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Kozlowski type spondylometaphyseal dysplasia: a case report with literature review.

Nural MS, Diren HB, Sakarya O, Yalin T, Dağdemir A.

Diagn Interv Radiol. 2006 Jun;12(2):70-3. Review.

PMID:
16752352
[PubMed - indexed for MEDLINE]
Free Article
14.

Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature.

Aygun C, Celik FC, Nural MS, Azak E, Kucukoduk S, Ogur G, Incesu L.

Am J Med Genet A. 2012 Jun;158A(6):1400-5. doi: 10.1002/ajmg.a.35306. Epub 2012 Apr 23. Review.

PMID:
22529034
[PubMed - indexed for MEDLINE]

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