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Items: 1 to 20 of 82

1.

Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature.

Al Kaissi A, Klaushofer K, Grill F.

Cases J. 2009 Sep 15;2:7873. doi: 10.4076/1757-1626-2-7873.

2.

A novel syndrome resembling Desbuquois dysplasia.

Al Kaissi A, Nessib N, Ghachem MB, Hammou A, Guiddana N, Kozlowski K.

Am J Med Genet A. 2005 Jan 1;132A(1):68-75.

PMID:
15558723
3.

Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.

Inoue S, Ishii A, Shirotani G, Tsutsumi M, Ohta E, Nakamura M, Mori T, Inoue T, Nishimura G, Ogawa A, Hirose S.

Pediatr Int. 2014 Aug;56(4):e26-9. doi: 10.1111/ped.12383.

PMID:
25252066
4.

Dyssegmental dysplasia (report of two cases with a review of the literature).

Fasanelli S, Kozlowski K, Reiter S, Sillence D.

Skeletal Radiol. 1985;14(3):173-7.

PMID:
4059934
6.

A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.

Miyake A, Nishimura G, Futami T, Ohashi H, Chiba K, Toyama Y, Furuichi T, Ikegawa S.

J Hum Genet. 2008;53(8):764-8. doi: 10.1007/s10038-008-0305-z. Epub 2008 Jun 14.

PMID:
18553123
7.

Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients.

Faivre L, Cormier-Daire V, Young I, Bracq H, Finidori G, Padovani JP, Odent S, Lachman R, Munnich A, Maroteaux P, Le Merrer M.

Am J Med Genet A. 2004 Jan 1;124A(1):54-9.

PMID:
14679587
8.

Desbuquois syndrome: clinical and radiological report of the first two Chinese cases from a consanguineous family.

Lam WF, Chan HB, Sillence DO.

J Paediatr Child Health. 2003 Dec;39(9):707-12.

PMID:
14629506
9.

Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations.

Faivre L, Cormier-Daire V, Eliott AM, Field F, Munnich A, Maroteaux P, Le Merrer M, Lachman R.

Am J Med Genet A. 2004 Jan 1;124A(1):48-53.

PMID:
14679586
10.

Clinical and genetic heterogeneity in Desbuquois dysplasia.

Faivre L, Le Merrer M, Zerres K, Ben Hariz M, Scheffer D, Young ID, Maroteaux P, Munnich A, Cormier-Daire V.

Am J Med Genet A. 2004 Jul 1;128A(1):29-32.

PMID:
15211652
11.

De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected].

Schrander-Stumpel C, Havenith M, Linden EV, Maertzdorf W, Offermans J, van der Harten J.

Clin Dysmorphol. 1994 Oct;3(4):318-27. Review. Erratum in: Clin Dysmorphol 1995 Apr;4(2):183.

PMID:
7632220
12.

A severe case of mandibuloacral dysplasia in a girl.

Schrander-Stumpel C, Spaepen A, Fryns JP, Dumon J.

Am J Med Genet. 1992 Jul 15;43(5):877-81. Review.

PMID:
1642279
13.

A new skeletal dysplasia: clinical, radiologic, and pathologic findings.

Burton BK, Sumner T, Langer LO Jr, Rimoin DL, Adomian GE, Lachman RS, Nicastro JF, Kelly DL, Weaver RG.

J Pediatr. 1986 Oct;109(4):642-8.

PMID:
3761078
14.

Desbuquois syndrome: three further cases and review of the literature.

Gillessen-Kaesbach G, Meinecke P, Ausems MG, Nöthen M, Albrecht B, Beemer FA, Zerres K.

Clin Dysmorphol. 1995 Apr;4(2):136-44. Review.

PMID:
7606320
15.

Severe bone changes in a case of Hutchinson-Gilford syndrome.

de Paula Rodrigues GH, das Eiras Tâmega I, Duque G, Spinola Dias Neto V.

Ann Genet. 2002 Jul-Sep;45(3):151-5.

PMID:
12381448
16.

Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.

Mégarbané A, Maroteaux P, Caillaud C, Le Merrer M.

Am J Med Genet A. 2004 Feb 15;125A(1):61-6. Review.

PMID:
14755468
17.

Dysplasia epiphysealis hemimelica of the tibial tubercle.

Thacker MM, Azouz EM, Scully SP, Pitcher JD Jr, Temple HT.

Pediatr Radiol. 2006 Mar;36(3):244-6. Epub 2005 Nov 12.

PMID:
16284759
18.

A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.

Panzer KM, Lachman R, Modaff P, Pauli RM.

Am J Med Genet A. 2008 Nov 15;146A(22):2920-4. doi: 10.1002/ajmg.a.32543.

PMID:
18925670
19.

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Faivre L, Le Merrer M, Al-Gazali LI, Ausems MG, Bitoun P, Bacq D, Maroteaux P, Munnich A, Cormier-Daire V.

J Med Genet. 2003 Apr;40(4):282-4.

20.

Cranio-meta-diaphyseal dysplasia: 25 year follow-up and review of literature.

Dhar SU, Taylor T, Trinh C, Sutton VR.

Am J Med Genet A. 2010 Sep;152A(9):2335-8. doi: 10.1002/ajmg.a.33582. Review.

PMID:
20684007
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