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Items: 1 to 20 of 127

1.

Chondrodysplasia punctata, tibia-metacarpal (MT) type.

Rittler M, Menger H, Spranger J.

Am J Med Genet. 1990 Oct;37(2):200-8.

PMID:
2248286
2.

Chondrodysplasia punctata: another possible X-linked recessive case.

Bennett CP, Berry AC, Maxwell DJ, Seller MJ.

Am J Med Genet. 1992 Dec 1;44(6):795-9.

PMID:
1481849
4.

Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type.

Argo KM, Toriello HV, Jelsema RD, Zuidema LJ.

Ultrasound Obstet Gynecol. 1996 Nov;8(5):350-4. Review.

5.

Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling.

Shukla A, Phadke SR.

Clin Dysmorphol. 2015 Jul;24(3):118-21. doi: 10.1097/MCD.0000000000000076. No abstract available.

PMID:
25602717
6.
7.

[Congenital epiphyseal chondrodysplasia punctata. Study of 9 cases].

Frontera Izquierdo P, Cabezuelo Huerta G, Malo Concepción P.

An Esp Pediatr. 1985 Sep;23(3):175-82. Spanish.

PMID:
4073686
8.

Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis.

Kumada S, Hayashi M, Kenmochi J, Kurosawa S, Shimozawa N, Kratz LE, Kelley RI, Taki K, Okaniwa M.

Am J Med Genet. 2001 Jan 22;98(3):250-5.

PMID:
11169563
9.

Case report: a newborn case of chondrodysplasia punctata, tibia-metacarpal type.

Matsui M, Honma Y, Oguro N, Shiraishi H, Kobayashi S, Yanagisawa M, Nakamura K.

Br J Radiol. 1994 Jan;67(793):97-9. No abstract available.

PMID:
8298883
10.

Provisionally unique autosomal recessive chondrodysplasia punctata syndrome.

Toriello HV, Higgins JV, Miller T.

Am J Med Genet. 1993 Oct 1;47(5):797-9.

PMID:
8267015
11.

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

Mortier GR, Messiaen LM, Espeel M, Smets KJ, Vanzieleghem BD, Roels F, De Paepe AM.

Pediatr Radiol. 1998 Oct;28(10):790-3.

PMID:
9799302
12.

Male siblings with tibia-metacarpal type of chondrodysplasia punctata without maternal factors.

Honda R, Ichiyama T, Maeba S, Sunagawa S, Furukawa S.

Brain Dev. 2008 Apr;30(4):301-4. Epub 2007 Oct 22.

PMID:
17950549
13.

Prenatal diagnosis of chondrodysplasia punctata by sonography.

Duff P, Harlass FE, Milligan DA.

Obstet Gynecol. 1990 Sep;76(3 Pt 2):497-500.

PMID:
2199870
14.

Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy.

Wester U, Brandberg G, Larsson M, Lönnerholm T, Annerén G.

Prenat Diagn. 2002 Aug;22(8):663-8.

PMID:
12210573
15.

Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants.

Gilbert EF, Opitz JM, Spranger JW, Langer LO Jr, Wolfson JJ, Viseskul C.

Eur J Pediatr. 1976 Sep 1;123(2):89-109.

PMID:
987909
16.

Chondrodysplasia punctata: further evidence of heterogeneity.

Norman AM, Jivani S, Kingston HM.

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

PMID:
1342864
17.

Microspherophakia in association with the rhizomelic form of chondrodysplasia punctata.

Eustis HS, Yaplee SM, Kogutt M, Ginsberg HG.

J Pediatr Ophthalmol Strabismus. 1990 Sep-Oct;27(5):237-41.

PMID:
2246735
18.

Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history.

Savarirayan R, Boyle RJ, Masel J, Rogers JG, Sheffield LJ.

Am J Med Genet A. 2004 Jan 15;124A(2):148-57. Review.

PMID:
14699613
19.

Warfarin therapy initiated during pregnancy and phenotypic chondrodysplasia punctata.

Pauli RM, Madden JD, Kranzler KJ, Culpepper W, Port R.

J Pediatr. 1976 Mar;88(3):506-8.

PMID:
1245966
20.

X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?

Wilson CJ, Aftimos S.

Am J Med Genet. 1998 Jul 7;78(3):300-2.

PMID:
9677071

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