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Results: 1 to 20 of 358

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?

Tüysüz B, Ungür S.

Am J Med Genet A. 2003 Jun 15;119A(3):375-80.

PMID:
12784309
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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]
8.

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
[PubMed - indexed for MEDLINE]
9.

Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset.

de Ravel TJ, De Smet L, Fryns JP.

Clin Dysmorphol. 2002 Oct;11(4):261-6.

PMID:
12401991
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.

Temtamy SA, Männikkö M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH.

Am J Med Genet A. 2006 Jun 1;140(11):1189-95.

PMID:
16637051
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?

Young ID, Zuccollo JM, Broderick NJ.

J Med Genet. 1993 Feb;30(2):155-7.

PMID:
8445622
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

Smithson SF, Grier D, Hall CM.

Clin Dysmorphol. 2009 Jan;18(1):31-5. doi: 10.1097/MCD.0b013e3283189762.

PMID:
19050402
[PubMed - indexed for MEDLINE]
18.

[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
[PubMed - indexed for MEDLINE]
19.

Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.

Meinecke P, Passarge E.

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

PMID:
1770539
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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
[PubMed - indexed for MEDLINE]

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