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Items: 1 to 20 of 116

1.

Prenatal diagnosis of boomerang dysplasia.

Wessels MW, Den Hollander NS, De Krijger RR, Bonifé L, Superti-Furga A, Nikkels PG, Willems PJ.

Am J Med Genet A. 2003 Oct 1;122A(2):148-54.

PMID:
12955767
2.

Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia.

Greally MT, Jewett T, Smith WL Jr, Penick GD, Williamson RA.

Am J Med Genet. 1993 Nov 15;47(7):1086-91.

PMID:
8291529
3.

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
4.

Prenatal sonographic diagnosis of skeletal dysplasias.

Schramm T, Gloning KP, Minderer S, Daumer-Haas C, Hörtnagel K, Nerlich A, Tutschek B.

Ultrasound Obstet Gynecol. 2009 Aug;34(2):160-70. doi: 10.1002/uog.6359.

5.

Prenatal diagnosis of the skeletal dysplasias.

Sharony R, Browne C, Lachman RS, Rimoin DL.

Am J Obstet Gynecol. 1993 Sep;169(3):668-75.

PMID:
8372878
6.

A new lethal skeletal dysplasia or the severe end of the atelosteogenesis spectrum?

Fryer AE, Carty H.

Pediatr Radiol. 1996 Sep;26(9):678-9.

PMID:
8781111
8.

Prenatal sonographic diagnosis of skeletal dysplasias--a report of the diagnostic and prognostic accuracy in 35 cases.

Gaffney G, Manning N, Boyd PA, Rai V, Gould S, Chamberlain P.

Prenat Diagn. 1998 Apr;18(4):357-62.

PMID:
9602482
9.

FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases.

Hatzaki A, Sifakis S, Apostolopoulou D, Bouzarelou D, Konstantinidou A, Kappou D, Sideris A, Tzortzis E, Athanassiadis A, Florentin L, Theodoropoulos P, Makatsoris C, Karadimas C, Velissariou V.

Am J Med Genet A. 2011 Oct;155A(10):2426-35. doi: 10.1002/ajmg.a.34189.

PMID:
21910223
10.

Detailed ultrasonographic findings in Greenberg dysplasia.

Madazli R, Aksoy F, Ocak V, Atasü T.

Prenat Diagn. 2001 Jan;21(1):65-7.

PMID:
11180245
11.

Atelosteogenesis syndromes: a review, with comments on their pathogenesis.

Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K.

Pediatr Radiol. 1997 May;27(5):388-96. Review.

PMID:
9133349
12.

A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging.

Tsutsumi S, Maekawa A, Obata M, Morgan T, Robertson SP, Kurachi H.

Fetal Diagn Ther. 2012;32(3):216-20. doi: 10.1159/000335687.

PMID:
22354125
13.

Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation.

Severi FM, Bocchi C, Sanseverino F, Petraglia F.

J Matern Fetal Neonatal Med. 2003 Apr;13(4):282-4.

PMID:
12854932
14.

Three-dimensional helical computed tomography in prenatal diagnosis of fetal skeletal dysplasia.

Macé G, Sonigo P, Cormier-Daire V, Aubry MC, Martinovic J, Elie C, Gonzales M, Carbonne B, Dumez Y, Le Merrer M, Brunelle F, Benachi A.

Ultrasound Obstet Gynecol. 2013 Aug;42(2):161-8. doi: 10.1002/uog.12298.

15.

Skeletal dysplasia in perinatal lethal osteogenesis imperfecta. A complex disorder of endochondral and intramembranous ossification.

Marion MJ, Gannon FH, Fallon MD, Mennuti MT, Lodato RF, Kaplan FS.

Clin Orthop Relat Res. 1993 Aug;(293):327-37.

PMID:
8339500
16.

Variability in kyphomelic dysplasia.

Cisarik F, Kozlowski K, Masel J, Sillence D.

Pediatr Radiol. 1999 Jul;29(7):551-7.

PMID:
10398797
17.

Fetal imaging in the skeletal dysplasias.

Lachman RS, Rappaport V.

Clin Perinatol. 1990 Sep;17(3):703-22. Review.

PMID:
2225693
18.
19.

Boomerang dysplasia. A new form of neonatal death dwarfism.

Tenconi R, Kozlowski K, Largaiolli G.

Rofo. 1983 Mar;138(3):378-80. No abstract available.

PMID:
6403439
20.

Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1.

Bejjani BA, Oberg KC, Wilkins I, Moise A, Langston C, Superti-Furga A, Lupski JR.

Am J Med Genet. 1998 Oct 12;79(5):392-5.

PMID:
9779808

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