These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel). Tonni G, Palmisano M, Ginocchi V, Ventura A, Baldi M, Baffico AM. Congenit Anom (Kyoto); 2014 Nov; 54(4):228-32. PubMed ID: 24517215 [Abstract] [Full Text] [Related]
7. Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II. Chen CP, Huang JP, Huang KS, Chen YY, Wu FT, Pan YT, Chiu CL, Wang W. Taiwan J Obstet Gynecol; 2024 May; 63(3):387-390. PubMed ID: 38802203 [Abstract] [Full Text] [Related]
10. A case of thanatophoric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis. Wong HS, Kidd A, Zuccollo J, Tuohy J, Strand L, Tait J, Pringle KC. Fetal Diagn Ther; 2008 May; 24(1):71-3. PubMed ID: 18504386 [Abstract] [Full Text] [Related]
15. [Cloverleaf skull deformity with thanatophoric dysplasia in the 24th week of pregnancy]. Habeck JO, Müller D. Anat Anz; 1986 May; 161(1):27-34. PubMed ID: 3085547 [Abstract] [Full Text] [Related]
16. Prenatal diagnosis of thanatophoric dwarfism in second trimester. A case report. Yüce MA, Yardim T, Kurtul M, Durukan S, Gücer F. Clin Exp Obstet Gynecol; 1998 May; 25(4):149-50. PubMed ID: 9987576 [Abstract] [Full Text] [Related]
17. Prenatal diagnosis of thanatophoric dysplasia at 24 weeks. Camera G, Dodero D, De Pascale S. Am J Med Genet; 1984 May; 18(1):39-43. PubMed ID: 6741994 [Abstract] [Full Text] [Related]
18. [Thanatoforic dysplasia--case report]. Pietryga M, Iciek R, Brazert M, Wender-Ozegowska E, Brazert J. Ginekol Pol; 2010 Jan; 81(1):55-60. PubMed ID: 20232701 [Abstract] [Full Text] [Related]
19. Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis. Bondioni MP, Pazzaglia UE, Izzi C, Di Gaetano G, Laffranchi F, Baldi M, Prefumo F. Radiol Med; 2017 Nov; 122(11):880-891. PubMed ID: 28674909 [Abstract] [Full Text] [Related]
20. Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia. Chen CP, Chern SR, Shih JC, Wang W, Yeh LF, Chang TY, Tzen CY. Prenat Diagn; 2001 Feb; 21(2):89-95. PubMed ID: 11241532 [Abstract] [Full Text] [Related] Page: [Next] [New Search]