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Archives of Gynecology and Obstetrics

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01-10-2009 | Case Report

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

Authors: Banu Dane, Cem Dane, Figen Aksoy, Murat Yayla

Published in: Archives of Gynecology and Obstetrics | Issue 4/2009

Abstract

Introduction

Holoprosencephaly (HPE) is commonly associated with facial malformations. We present a case of semilobar HPE associated with distal limb defect which was detected at 12 weeks of gestation.

Case

The fetus had a crown-rump length of 60 mm (12 weeks–4 days), had nuchal translucency thickness of 1.5 mm. Initial two-dimensional (2D) ultrasound revealed the absence of nasal bone, decreased BPD and abnormal profile. Transvaginal 2D ultrasound was effective in the detection of HPE (partially absence of the interhemispheric fissure, fused thalami, the choroid plexuses were not visualized bilateraly: absent ‘butterfly’ sign), cylopia, absence of the nose and unilateral radial aplasia. Three dimensional (3D) ultrasound provided a better visualization of the associated anomalies. The necropsy result confirmed the sonographic findings: the diagnosis was semilobar HPE, cyclopia, absence of the nose, and the absence of the radius and the thumb in the left arm.

Discussion

Transvaginal 2D sonographic examination is effective in detection of the cases with HPE at first trimester. Fetal morphological study through 3D ultrasound may facilitate the diagnosis of associated anomalies.

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

Joo GJ, Beke A, Papp C, Toth-Pal E, Szigeti Z, Ban Z, Papp Z (2005) Prenatal diagnosis, phenotypic and obstetric characteristics of holoprosencephaly. Fetal Diagn Ther 20:161–166. doi:10.1159/000083897 PubMedCrossRef

Mc Pherson E, Huff D, Dunn J, Muenke M (2004) Anomalies of the forebrain with radial limb defects: garcia-lurie-stainfeld syndrome? Birth Defects Res 70:537–544. doi:10.1002/bdra.20053 CrossRef

Blaas HG, Eik-Nes SH, Vainio T, Isaksen CV (2000) Alobar holoprosencephaly at 9 weeks gestational age visualization: two- and three-dimensional ultrasound. Ultrasound Obstet Gynecol 15:62–65. doi:10.1046/j.1469-0705.2000.00005.x PubMedCrossRef

Tonni G, Centini G (2006) Three-dimensional first trimester transvaginal diagnosis of alobar holoprosencephaly associated with omphalocele in a 46, XX fetus. Am J Perinatol 23:67–69. doi:10.1055/s-2005-923436 PubMedCrossRef

Hsu TY, Chang SY, Ou CY, Chen ZH, Tsai WL, Chang MS, Soong YK (2001) First trimester diagnosis of holoprosencephaly and cyclopia with triploidy by transvaginal three dimensional ultrasonography. Eur J Obstet Gynecol Reprod Biol 96:235–237. doi:10.1016/S0301-2115(00)00453-X PubMedCrossRef

David AL, Gowda V, Turnbull C, Chitty LS (2007) The risk of recurrence of holoprosencephaly in euploid fetuses. Obstet Gynecol 110:658–662PubMed

Bronshtein M, Wiener Z (1991) Early transvaginal sonographic diagnosis of alobar holoprosencephaly. Prenat Diagn 11:459–462. doi:10.1002/pd.1970110708 PubMedCrossRef

van Zalen-Sprock R, van Vugt JM, van der Harten HJ, Nieuwint AW, van Geijn HP (1995) First trimester diagnosis of cyclopia and holoprosencephaly. J Ultrasound Med 14:631–633PubMed

10.

Gembruch U, Baschat AA, Reusche E, Wallner SJ, Greiwe M (1995) First trimester diagnosis of holoprosencephaly with a Dandy-Walker malformation by transvaginal ultrasonography. J Ultrasound Med 14:619–622PubMed

11.

Tongsong T, Wanapirak C, Chanprapaph P, Siriangkul S (1999) First trimester sonographic diagnosis of holoprosencephaly. Int J Gynaecol Obstet 66:165–169. doi:10.1016/S0020-7292(99)00059-4 PubMedCrossRef

12.

Wong HS, Tang MH, Yan KW, Cheung LW (1999) Histological findings in a case of alobar holoprosencephaly diagnosed at 10 weeks of pregnancy. Prenat Diagn 19:859–862. doi:10.1002/(SICI)1097-0223(199909)19:9<859::AID-PD633>3.0.CO;2-7 PubMedCrossRef

13.

Wong HS, Lam YH, Tang MH, Cheung LW, Ng LK, Yan KW (1999) First-trimester ultrasound diagnosis of holoprosencephaly: three case reports. Ultrasound Obstet Gynecol 13:356–359PubMedCrossRef

14.

Turner CD, Silva S, Jeanty P (1999) Prenatal diagnosis of alobar holoprosencephaly at 10 weeks of gestation. Ultrasound Obstet Gynecol 13:360–362PubMedCrossRef

15.

Witters I, Moerman P, Muenke M, Van Assche FA, Devriendt K, Legius E, Van Shoubroeck D, Fryns JP (2001) Semilobar holoprosencephaly in a 46, XY female fetus. Prenat Diagn 21:839–841PubMedCrossRef

16.

Tonni G, Ventura A, Centini G, De Felice C (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.

Sepulveda W, Dezerega V, Be C (2004) Diagnosis of holoprosencephaly. Value of the ‘butterfly’ sign. J Ultrasound Med 23:761–765PubMed

18.

Stagiannis KD, Sepulveda W, Bower S (1995) Early prenatal diagnosis of holoprosencephaly: the value of transvaginal ultrasonography. Eur J Obstet Gynecol Reprod Biol 61:175–176PubMedCrossRef

19.

Lai TH, Chang CH, Yu CH, Kuo PL, Chang FM (2000) Prenatal diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound. Prenat Diagn 20:400–403PubMedCrossRef

20.

Kim MS, Jeanty P, Turner C, Benoit B (2008) Three- dimensional sonographic evaluations of embriyonic brain development. J Ultrasound Med 27:119–124PubMed

21.

Zheng Y, Zhou XD, Zhu YL, Wang XL, Quian YQ, Lei XY, Chen BL, Yu M, Xin XY (2008) Three and four dimensional ultrasonography in the prenatal evaluation of fetal anomalies associated with trisomy 18. J Ultrasound Med 27:1041–1051PubMed

22.

Chen CP, Shih JC, Hsu CY, Chen CY, Huang JK, Wang W (2005) Prenatal three-dimensional/four-dimensional sonographic demonstration of facial dysmorphisms associated with holoprosencephaly. J Clin Ultrasound 33:312–318PubMedCrossRef

23.

Blaas HGK, Eriksson AG, Salvesen KA, Isaksen CV, Christensen B, Mollerlokken G, Eiknes S (2002) Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol 19:24–38PubMedCrossRef

24.

Sepulveda W, Treadwell MC, Fisk NM (1995) Prenatal detection of preaxial upper limb reduction in trisomy 18. Obstet Gynecol 85:847–850PubMedCrossRef

25.

Steinfeld HJ (1982) Case report 81: holoprosencephaly and visceral defects with familial limb abnormalities. Syndr Identif 8:1–2

26.

Garcia CA, Duncan C (1977) Atelencephalic microcephaly. Dev Med Child Neurol 1:227–232

27.

Lurie IW, Nedzved MK, Lazjuk GI, Kirillova IA, Cherstvoy ED (1979) Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome. Am J Med Genet 3:301–309PubMedCrossRef

28.

Siebert JR, Schoenecker KA, Resta RG, Kapur RP (2005) Holoprosencephaly and limb reduction defects: a consideration of Steinfeld syndrome and related conditions. Am J Med Genet 134 A:381–392CrossRef

29.

Capobianco G, Cherchi PL, Ambrosini G, Cosmi E, Andrisani A, Dessole S (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 275:385–387PubMedCrossRef

30.

Cohen MM Jr, Shiota K (2002) Teratogenesis of holoprosencephaly. Am J Med Genet 109:1–15PubMedCrossRef

31.

Cohen MM Jr (2003) The hedgehog signaling network. Am J Med Genet 123 A:5–28CrossRef

32.

Brown LY, Odent S, David V, Blayau M, Dubourg C, Apacik C, Delgado MA, Hall BD, Reynolds JF, Sommer A, Wieczorek D, Brown SA, Muenke M (2001) Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. Hum Mol Genet 10:791–796PubMedCrossRef

33.

Chuang L, Kuo PL, Yang HB, Chien CH, Chen PY, Chang CH, Chang FM (2003) Prenatal diagnosis of holoprosencephaly in two fetuses with der (7)t(q32;q32)pat inherited from the father with double translocations. Prenat Diagn 23:134–137PubMedCrossRef

Title: Semilobar holoprosencephaly with associated cyclopia and radial aplasia: first trimester diagnosis by means of integrating 2D–3D ultrasound
Authors: Banu Dane
Cem Dane
Figen Aksoy
Murat Yayla
Publication date: 01-10-2009
Publisher: Springer-Verlag
Published in: Archives of Gynecology and Obstetrics / Issue 4/2009
Print ISSN: 0932-0067
Electronic ISSN: 1432-0711
DOI: https://doi.org/10.1007/s00404-009-0975-6

At a glance: The STEP trials

Springer Medicine

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

Abstract

Introduction

Case

Discussion

At a glance: The STEP trials

Springer Medicine

Abstract

Introduction

Case

Discussion

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