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Results: 1 to 20 of 104

1.

Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones.

Begam MA, Alsafi W, Bekdache GN, Chedid F, Al-Gazali L, Mirghani HM.

Ultrasound Obstet Gynecol. 2011 Nov;38(5):553-8. doi: 10.1002/uog.8967.

PMID:
21337444
[PubMed - indexed for MEDLINE]
Free Article
2.

Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.

Jung C, Dagoneau N, Baujat G, Le Merrer M, David A, Di Rocco M, Hamel B, Mégarbané A, Superti-Furga A, Unger S, Munnich A, Cormier-Daire V.

Clin Genet. 2010 Mar;77(3):266-72. doi: 10.1111/j.1399-0004.2009.01314.x.

PMID:
20447141
[PubMed - indexed for MEDLINE]
3.

Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.

Gaspar IM, Saldanha T, Cabral P, Vilhena MM, Tuna M, Costa C, Dagoneau N, Daire VC, Hennekam RC.

Am J Med Genet A. 2008 Jul 1;146A(13):1748-53. doi: 10.1002/ajmg.a.32325. Review.

PMID:
18546280
[PubMed - indexed for MEDLINE]
4.

Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome.

Corona-Rivera JR, Cormier-Daire V, Dagoneau N, Coello-Ramírez P, López-Marure E, Romo-Huerta CO, Silva-Baez H, Aguirre-Salas LM, Estrada-Solorio MI.

Eur J Med Genet. 2009 Jul-Aug;52(4):242-6. doi: 10.1016/j.ejmg.2009.04.001. Epub 2009 Apr 14.

PMID:
19371797
[PubMed - indexed for MEDLINE]
5.

Stüve-Wiedemann syndrome and related bent bone dysplasias.

Akawi NA, Ali BR, Al-Gazali L.

Clin Genet. 2012 Jul;82(1):12-21. doi: 10.1111/j.1399-0004.2012.01852.x. Epub 2012 Feb 21. Review.

PMID:
22300393
[PubMed - indexed for MEDLINE]
6.

[Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases].

Lahmar-Boufaroua A, Yacoubi MT, Hmisssa S, Selmi M, Korbi S.

Tunis Med. 2009 Feb;87(2):127-32. French.

PMID:
19522446
[PubMed - indexed for MEDLINE]
Free Article
7.

Ultrasound findings of a rare congenital skeletal dysplasia: Stüve-Wiedemann syndrome.

Rugolo S, Cavallaro A, Giuffrida L, Cianci A.

Minerva Ginecol. 2007 Feb;59(1):91-4.

PMID:
17353878
[PubMed - indexed for MEDLINE]
8.

Presentation of six cases of Stüve-Wiedemann syndrome.

Cormier-Daire V, Munnich A, Lyonnet S, Rustin P, Delezoide AL, Maroteaux P, Le Merrer M.

Pediatr Radiol. 1998 Oct;28(10):776-80.

PMID:
9799300
[PubMed - indexed for MEDLINE]
9.

Outcomes of congenital diaphragmatic hernia: a population-based study in Western Australia.

Colvin J, Bower C, Dickinson JE, Sokol J.

Pediatrics. 2005 Sep;116(3):e356-63. Erratum in: Pediatrics. 2006 May;117(5):1870.

PMID:
16140678
[PubMed - indexed for MEDLINE]
10.

Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases.

Doray B, Favre R, Viville B, Langer B, Dreyfus M, Stoll C.

Ann Genet. 2000 Jul-Dec;43(3-4):163-9.

PMID:
11164199
[PubMed - indexed for MEDLINE]
11.

Sonographic femur length to trunk cross area ratio: prediction of fetal outcome in 30 cases in which micromelia was suspected.

Arahori H, Tamura A, Wasada K, Shimoya K, Wada K, Murata Y, Ozono K.

J Obstet Gynaecol Res. 2007 Jun;33(3):248-53.

PMID:
17578350
[PubMed - indexed for MEDLINE]
12.

[Osseous abnormalities and CT findings in Stueve-Wiedemann-Syndrome (SWS)].

Langer R, Al-Gazali L, Haas D, Raupp P, Varady E.

Rofo. 2004 Feb;176(2):215-21. German.

PMID:
14872375
[PubMed - indexed for MEDLINE]
13.

Predictive value of fetal ultrasonography in the diagnosis of a lethal skeletal dysplasia.

Hersh JH, Angle B, Pietrantoni M, Cook VD, Spinnato JA, Clark AL, Kurtzman JT, Bendon RW, Gerassimides A.

South Med J. 1998 Dec;91(12):1137-42.

PMID:
9853726
[PubMed - indexed for MEDLINE]
14.

Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome.

Raas-Rothschild A, Ergaz-Schaltiel Z, Bar-Ziv J, Rein AJ.

Am J Med Genet A. 2003 Aug 30;121A(2):156-8. Review.

PMID:
12910496
[PubMed - indexed for MEDLINE]
15.

[Prenatal diagnosis of skeletal dysplasia: case report of a fetus with multiple anomalies].

Novakov Mikić A, Stojić S, Konstantinidis G, Ristivojević A, Krnojelac D.

Med Pregl. 2000 Mar-Apr;53(3-4):197-201. Croatian.

PMID:
10965689
[PubMed - indexed for MEDLINE]
16.

Congenital bowing of long bones: prenatal ultrasound findings and diagnostic dilemmas.

Farra C, Piquet C, Guillaume M, D'Ercole C, Philip N.

Fetal Diagn Ther. 2002 Jul-Aug;17(4):236-9.

PMID:
12065952
[PubMed - indexed for MEDLINE]
17.

Camptomelic dysplasia: prenatal diagnosis by ultrasound.

Natasha G, Ghai R, Shah D, Kiran PS.

Skeletal Radiol. 2006 Sep;35(9):699-701. Epub 2005 Sep 20.

PMID:
16172861
[PubMed - indexed for MEDLINE]
18.

[Prenatal diagnose of abnormalities of fetal limb bone].

Song J, Wang X.

Zhonghua Fu Chan Ke Za Zhi. 2010 Oct;45(10):745-9. Chinese.

PMID:
21176554
[PubMed - indexed for MEDLINE]
19.

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".

Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A.

Am J Med Genet. 1998 Jun 30;78(2):150-4.

PMID:
9674906
[PubMed - indexed for MEDLINE]
20.

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.

Cormier-Daire V, Superti-Furga A, Munnich A, Lyonnet S, Rustin P, Delezoide AL, De Lonlay P, Giedion A, Maroteaux P, Le Merrer M.

Am J Med Genet. 1998 Jun 30;78(2):146-9.

PMID:
9674905
[PubMed - indexed for MEDLINE]

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