Semilobar holoprosencephaly with associated cyclopia and radial aplasia: First trimester diagnosis by means of integrating 2D-3D ultrasound

Archives of Gynecology and Obstetrics

Volumn 280, Issue 4, 2009, Pages 647-651

  Dane, Banu ^a,c   Dane, Cem ^a   Aksoy, Figen ^b   Yayla, Murat ^a  

^a HASEKI EDUCATION AND RESEARCH HOSPITAL   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

^c NONE   (Turkey)

Author keywords

3D ultrasonography; Cyclopia; Holoprosencephaly; Radial aplasia; Transvaginal ultrasonography

Indexed keywords

ARTICLE; AUTOPSY; BIPARIETAL DISTANCE; CROWN RUMP LENGTH; CYCLOPIA; FETUS; FIRST TRIMESTER PREGNANCY; HOLOPROSENCEPHALY; HUMAN; KARYOTYPE; MEDICAL ABORTION; NUCHAL TRANSLUCENCY MEASUREMENT; RADIUS APLASIA; THREE DIMENSIONAL IMAGING; TRANSVAGINAL ECHOGRAPHY; ULTRASOUND SCANNER;

ADULT; ANOPHTHALMOS; FEMALE; HOLOPROSENCEPHALY; HUMANS; PREGNANCY; PREGNANCY TRIMESTER, FIRST; RADIUS; ULTRASONOGRAPHY, PRENATAL;

EID: 69249228577     PISSN: 09320067     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00404-009-0975-6     Document Type: Article

References (33)

1. Ming JE, Golden JA (2004) Midline patterning defects. In: Golden JA, Harding B (eds) Developmental neuropathology, vol 4. International Society for Neuropathology (ISN) Neuropath Press, Basel, p 386
2. GJ Joo A Beke C Papp E Toth-Pal Z Szigeti Z Ban Z Papp 2005 Prenatal diagnosis, phenotypic and obstetric characteristics of holoprosencephaly Fetal Diagn Ther 20 161 166 10.1159/000083897 (Pubitemid 40591541)
3. E Mc Pherson D Huff J Dunn M Muenke 2004 Anomalies of the forebrain with radial limb defects: garcia-lurie-stainfeld syndrome? Birth Defects Res 70 537 544 10.1002/bdra.20053 (Pubitemid 39167069)
4. HG Blaas SH Eik-Nes T Vainio CV Isaksen 2000 Alobar holoprosencephaly at 9 weeks gestational age visualization: two- and three-dimensional ultrasound Ultrasound Obstet Gynecol 15 62 65 10.1046/j.1469-0705.2000.00005.x (Pubitemid 33108670)
5. G Tonni G Centini 2006 Three-dimensional first trimester transvaginal diagnosis of alobar holoprosencephaly associated with omphalocele in a 46, XX fetus Am J Perinatol 23 67 69 10.1055/s-2005-923436 (Pubitemid 43214408)
6. TY Hsu SY Chang CY Ou ZH Chen WL Tsai MS Chang YK Soong 2001 First trimester diagnosis of holoprosencephaly and cyclopia with triploidy by transvaginal three dimensional ultrasonography Eur J Obstet Gynecol Reprod Biol 96 235 237 10.1016/S0301-2115(00)00453-X (Pubitemid 32522571)
7. AL David V Gowda C Turnbull LS Chitty 2007 The risk of recurrence of holoprosencephaly in euploid fetuses Obstet Gynecol 110 658 662
8. M Bronshtein Z Wiener 1991 Early transvaginal sonographic diagnosis of alobar holoprosencephaly Prenat Diagn 11 459 462 10.1002/pd.1970110708
9. R van Zalen-Sprock JM van Vugt HJ van der Harten AW Nieuwint HP van Geijn 1995 First trimester diagnosis of cyclopia and holoprosencephaly J Ultrasound Med 14 631 633
10. U Gembruch AA Baschat E Reusche SJ Wallner M Greiwe 1995 First trimester diagnosis of holoprosencephaly with a Dandy-Walker malformation by transvaginal ultrasonography J Ultrasound Med 14 619 622
11. T Tongsong C Wanapirak P Chanprapaph S Siriangkul 1999 First trimester sonographic diagnosis of holoprosencephaly Int J Gynaecol Obstet 66 165 169 10.1016/S0020-7292(99)00059-4 (Pubitemid 29333200)
12. HS Wong MH Tang KW Yan LW Cheung 1999 Histological findings in a case of alobar holoprosencephaly diagnosed at 10 weeks of pregnancy Prenat Diagn 19 859 862 10.1002/(SICI)1097-0223(199909)19:9<859::AID-PD633>3.0.CO;2-7 (Pubitemid 29438178)
13. HS Wong YH Lam MH Tang LW Cheung LK Ng KW Yan 1999 First-trimester ultrasound diagnosis of holoprosencephaly: three case reports Ultrasound Obstet Gynecol 13 356 359
14. CD Turner S Silva P Jeanty 1999 Prenatal diagnosis of alobar holoprosencephaly at 10 weeks of gestation Ultrasound Obstet Gynecol 13 360 362
15. I Witters P Moerman M Muenke FA Van Assche K Devriendt E Legius D Van Shoubroeck JP Fryns 2001 Semilobar holoprosencephaly in a 46, XY female fetus Prenat Diagn 21 839 841
16. G Tonni A Ventura G Centini C De Felice 2008 First trimester three-dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46, XX fetus Congenit Anom (Kyoto) 48 51 55
17. W Sepulveda V Dezerega C Be 2004 Diagnosis of holoprosencephaly. Value of the 'butterfly' sign J Ultrasound Med 23 761 765
18. KD Stagiannis W Sepulveda S Bower 1995 Early prenatal diagnosis of holoprosencephaly: the value of transvaginal ultrasonography Eur J Obstet Gynecol Reprod Biol 61 175 176
19. TH Lai CH Chang CH Yu PL Kuo FM Chang 2000 Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound Prenat Diagn 20 400 403
20. MS Kim P Jeanty C Turner B Benoit 2008 Three- dimensional sonographic evaluations of embriyonic brain development J Ultrasound Med 27 119 124
21. Y Zheng XD Zhou YL Zhu XL Wang YQ Quian XY Lei BL Chen M Yu XY Xin 2008 Three and four dimensional ultrasonography in the prenatal evaluation of fetal anomalies associated with trisomy 18 J Ultrasound Med 27 1041 1051
22. CP Chen JC Shih CY Hsu CY Chen JK Huang W Wang 2005 Prenatal three-dimensional/four-dimensional sonographic demonstration of facial dysmorphisms associated with holoprosencephaly J Clin Ultrasound 33 312 318
23. HGK Blaas AG Eriksson KA Salvesen CV Isaksen B Christensen G Mollerlokken S Eiknes 2002 Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases Ultrasound Obstet Gynecol 19 24 38
24. W Sepulveda MC Treadwell NM Fisk 1995 Prenatal detection of preaxial upper limb reduction in trisomy 18 Obstet Gynecol 85 847 850
25. HJ Steinfeld 1982 Case report 81: holoprosencephaly and visceral defects with familial limb abnormalities Syndr Identif 8 1 2
26. CA Garcia C Duncan 1977 Atelencephalic microcephaly Dev Med Child Neurol 1 227 232
27. IW Lurie MK Nedzved GI Lazjuk IA Kirillova ED Cherstvoy 1979 Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome Am J Med Genet 3 301 309
28. JR Siebert KA Schoenecker RG Resta RP Kapur 2005 Holoprosencephaly and limb reduction defects: a consideration of Steinfeld syndrome and related conditions Am J Med Genet 134 A 381 392
29. G Capobianco PL Cherchi G Ambrosini E Cosmi A Andrisani S Dessole 2007 Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus with maternal gestational diabetes mellitus: a 2D ultrasound diagnosis and review of the literature Arch Gynecol Obstet 275 385 387
30. MM Cohen Jr K Shiota 2002 Teratogenesis of holoprosencephaly Am J Med Genet 109 1 15
31. MM Cohen Jr 2003 The hedgehog signaling network Am J Med Genet 123 A 5 28
32. LY Brown S Odent V David M Blayau C Dubourg C Apacik MA Delgado BD Hall JF Reynolds A Sommer D Wieczorek SA Brown M Muenke 2001 Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination Hum Mol Genet 10 791 796
33. L Chuang PL Kuo HB Yang CH Chien PY Chen CH Chang FM Chang 2003 Prenatal diagnosis of holoprosencephaly in two fetuses with der (7)t(q32;q32)pat inherited from the father with double translocations Prenat Diagn 23 134 137