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Items: 1 to 20 of 104

1.

Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features.

Miller SF, Proud VK, Werner AL, Field FM, Wilcox WF, Lachman RS, Rimoin DL.

Pediatr Radiol. 2003 Apr;33(4):256-60. Epub 2003 Feb 5.

PMID:
12709756
3.

New epiphyseal stippling syndrome with osteoclastic hyperplasia.

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

Am J Med Genet. 1993 Mar 1;45(5):558-61.

PMID:
8456823
4.

Chondrodysplasia punctata: further evidence of heterogeneity.

Norman AM, Jivani S, Kingston HM.

Clin Dysmorphol. 1992 Jul;1(3):161-4.

PMID:
1342864
5.

Punctate epiphyses associated with Turner syndrome.

Morrison SC.

Pediatr Radiol. 1999 Jun;29(6):478-80.

PMID:
10369911
6.

Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports.

Wardinsky TD, Pagon RA, Powell BR, McGillivray B, Stephan M, Zonana J, Moser A.

Clin Genet. 1990 Aug;38(2):84-93. Review.

PMID:
2208770
7.

Acro-spondylar variant of punctate epiphyseal dysplasia (report of two cases).

Kozlowski K, Majewski F.

Rofo. 1990 Jan;152(1):115-7. No abstract available.

PMID:
2154001
8.

[Dysplasia epiphysialis punctata].

Maksudov GB.

Pediatriia. 1980 Dec;(12):33-4. Russian. No abstract available.

PMID:
7220170
9.

Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction.

Miyazaki O, Nishimura G, Sago H, Watanabe N, Ebina S.

Pediatr Radiol. 2007 Nov;37(11):1151-4. Epub 2007 Sep 6.

PMID:
17805524
10.

Chondrodysplasia punctata with retinal colobomas: radiographic findings.

Herman TE.

J Perinatol. 1998 Mar-Apr;18(2):152-5. No abstract available.

PMID:
9605308
11.

Lethal non-rhizomelic dysplasia epiphysealis punctata.

Kozlowski K, Godlonton J, Gardner J, Beighton P.

Clin Dysmorphol. 2002 Jul;11(3):203-8.

PMID:
12072802
12.

Chondrodysplasia punctata: a case report.

Mulpruek P, Mulpruek T, Phatrakom C.

J Med Assoc Thai. 1992 Jan;75 Suppl 1:119-24. Review.

PMID:
1402454
13.

A practical radiologic approach to skeletal dysplasias in infancy.

Dutton RV.

Radiol Clin North Am. 1987 Nov;25(6):1211-33.

PMID:
3118409
14.

Chondrodysplasia punctata. Report of two cases.

Andersen PE Jr, Justesen P.

Skeletal Radiol. 1987;16(3):223-6.

PMID:
3589739
15.

[Chondrodysplasia punctata congenita: a genetic heterogenous disease].

Hack WW, Derksen-Samson JF, Grimberg RT, van der Harten JJ.

Tijdschr Kindergeneeskd. 1984 Feb;52(1):16-23. Dutch.

PMID:
6710469
16.

Conradi-Hunermann syndrome: a case report.

Louvar RD, Block WM, Martin LR.

Clin Pediatr (Phila). 1974 Aug;13(8):680-5. No abstract available.

PMID:
4448037
17.

Metatropic dysplasia lethal variants.

Hall CM, El├žioglu NH.

Pediatr Radiol. 2004 Jan;34(1):66-74. Epub 2003 Oct 18.

PMID:
14566438
19.

Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia.

Saul RA, Proud V, Taylor HA, Leroy JG, Spranger J.

Am J Med Genet A. 2005 Jun 15;135(3):328-32.

PMID:
15887289
20.

Unusual radiographic manifestations of chondrodysplasia punctata.

Lawrence JJ, Schlesinger AE, Kozlowski K, Poznanski AK, Bacha L, Dreyer GL, Barylak A, Sillence DO, Rager K.

Skeletal Radiol. 1989;18(1):15-9.

PMID:
2711205

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