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Items: 1 to 20 of 113

1.

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
2.

Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.

Loshkajian A, Roume J, Stanescu V, Delezoide AL, Stampf F, Maroteaux P.

Am J Med Genet. 1997 Aug 22;71(3):283-8. Review.

PMID:
9268097
3.

Morphologic observations in a case of lethal variant (type I) metatropic dysplasia with atypical features: morphology of lethal metatropic dysplasia.

O'Sullivan MJ, McAllister WH, Ball RH, Teitelbaum SL, Swanson PE, Dehner LP.

Pediatr Dev Pathol. 1998 Sep-Oct;1(5):405-12.

PMID:
10507892
4.

[Metatropic dysplasia. A rare skeletal anomaly (author's transl)].

Miething R, Stöver B, Noeske H.

Monatsschr Kinderheilkd. 1980 Mar;128(3):153-6. German.

PMID:
7366584
5.

A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.

Borochowitz Z, Jones KL, Silbey R, Adomian G, Lachman R, Rimoin DL.

Am J Med Genet. 1986 Sep;25(1):47-59.

PMID:
3799723
6.

Metatropic dysplasia in children.

Akhter S, Rahman S, Momen M, Karim M, Kawser C.

Mymensingh Med J. 2008 Jan;17(1):93-7.

PMID:
18285743
7.

Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasias.

Rimoin DL, Siggers DC, Lachman RS, Silberberg R.

Clin Orthop Relat Res. 1976 Jan-Feb;(114):70-82.

PMID:
177239
8.

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
9.

Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology.

Whitley CB, Langer LO Jr, Ophoven J, Gilbert EF, Gonzalez CH, Mammel M, Coleman M, Rosemberg S, Rodriques CJ, Sibley R, et al.

Am J Med Genet. 1984 Oct;19(2):265-75.

PMID:
6507478
10.

An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.

Menger H, Mundlos S, Becker K, Spranger J, Zabel B.

Am J Med Genet. 1996 May 3;63(1):80-3.

PMID:
8723091
11.
12.

Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.

Meinecke P, Passarge E.

J Med Genet. 1991 Nov;28(11):795-800.

13.

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.

Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamandé SR, Savarirayan R.

Orphanet J Rare Dis. 2011 Jun 9;6:37. doi: 10.1186/1750-1172-6-37.

14.

Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds.

Breur GJ, Zerbe CA, Slocombe RF, Padgett GA, Braden TD.

J Am Vet Med Assoc. 1989 Sep 1;195(5):606-12.

PMID:
2777707
15.

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.

Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourlière B, Ayme S, Philip N.

Am J Med Genet. 1998 Oct 30;80(1):16-24. Review.

PMID:
9800907
16.

Metatropic Dysplasia with a Novel Mutation in TRPV4.

Narayanan DL, Bhavani GS, Girisha KM, Phadke SR.

Indian Pediatr. 2016 Aug 8;53(8):735-7.

17.

Schneckenbecken dysplasia in fetus: report of four cases.

Lahmar-Boufaroua A, Yacoubi MT, Belaid L, Delezoide AL.

Fetal Diagn Ther. 2009;25(2):216-9. doi: 10.1159/000214860. Epub 2009 Apr 29.

PMID:
19407457
18.

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
19.

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