Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 16

1.

Heterogeneity of metatropic dysplasia.

Beck M, Roubicek M, Rogers JG, Naumoff P, Spranger J.

Eur J Pediatr. 1983 Jun-Jul;140(3):231-7.

PMID:
6628444
2.

Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature.

Geneviève D, Le Merrer M, Feingold J, Munnich A, Maroteaux P, Cormier-Daire V.

Am J Med Genet A. 2008 Apr 15;146A(8):992-6. doi: 10.1002/ajmg.a.32191. Review.

PMID:
18348257
3.

Brachyolmia: radiographic and genetic evidence of heterogeneity.

Shohat M, Lachman R, Gruber HE, Rimoin DL.

Am J Med Genet. 1989 Jun;33(2):209-19. Review.

PMID:
2669482
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.

5.

Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.

Burns C, Powell BR, Hsia YE, Reinker K.

J Pediatr Orthop. 2003 Jan-Feb;23(1):88-93. Review.

PMID:
12499951
6.

[Evidence of heterogeneity in dyssegmental dysplasia].

Oliván Gonzalvo G, Bueno Sánchez M.

An Esp Pediatr. 1990 Sep;33(3):213-23. Review. Spanish.

PMID:
2285185
7.

TRPV4-associated skeletal dysplasias.

Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):190-204. doi: 10.1002/ajmg.c.31335. Epub 2012 Jul 12. Review.

PMID:
22791502
8.

Spine deformities in rare congenital syndromes: clinical issues.

Campbell RM Jr.

Spine (Phila Pa 1976). 2009 Aug 1;34(17):1815-27. doi: 10.1097/BRS.0b013e3181ab64e9. Review.

PMID:
19644333
9.

The diagnosis of skeletal dysplasias: a multidisciplinary approach.

Mortier GR.

Eur J Radiol. 2001 Dec;40(3):161-7. Review.

PMID:
11731205
10.

Kyphosis and Kyphoscoliosis Associated with Congenital Malformations of the Thoracic Vertebral Bodies in Dogs.

Dewey CW, Davies E, Bouma JL.

Vet Clin North Am Small Anim Pract. 2016 Mar;46(2):295-306. doi: 10.1016/j.cvsm.2015.10.009. Epub 2015 Dec 17. Review.

PMID:
26704660
11.

Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.

Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI.

Am J Med Genet A. 2004 Sep 15;130A(1):55-72. Review.

PMID:
15368497
12.

Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia.

Chemke J, Carmi R, Galil A, Bar-Ziv Y, Ben-Ytzhak I, Zurkowski L.

Am J Med Genet. 1992 Aug 1;43(6):989-95. Review.

PMID:
1415350
13.

[Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin].

Martínez-Frías ML, Cormier-Daire V, Cohn DH, Mendioroz J, Bermejo E, Mansilla E.

Med Clin (Barc). 2007 Feb 3;128(4):137-40. Review. Spanish.

PMID:
17288936
14.

[Bone and joint diseases in children. Skeletal dysplasia in children--unrecognized cases in daily practice].

Ikegawa S.

Clin Calcium. 2010 Jun;20(6):840-7. doi: CliCa1006840847. Review. Japanese.

PMID:
20513941
15.

[Metatropic dysplasia as the cause of atlantoaxial instability, spinal stenosis and myelopathy: case report and literature review].

Barna M, Stulík J, Fencl F.

Acta Chir Orthop Traumatol Cech. 2012;79(2):169-74. Review. Czech.

PMID:
22538111
16.

Bilateral congenital absence of anterior cruciate ligaments associated with the scoliosis and hip dysplasia: a case report and review of the literature.

Hu J, DU SX, Huang ZL, Xia X.

Chin Med J (Engl). 2010 Apr 20;123(8):1099-102. Review. No abstract available.

PMID:
20497723

Supplemental Content

Support Center