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Year 2017, Volume: 3 Issue: 3, 164 - 167, 28.09.2017

Abstract

References

  • References: 1. Roach E, Demyer W, Conneally PM, Palmer C, et al. Holoprosencephaly: birth data, benetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser. 1975;11(2):294-313.
  • 2. Matsunaga E, Shiota K. Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology 1977;16:261–72.
  • 3. Demyer W., Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. Confin Neurol 1963, 23:1-36
  • 4. Rathod S, Samal SK, Begum J. Holoprosencephaly with cyclopia: a rare case report. Int J Otorhinolaryngol Head Neck Surg 2015;1:37-9
  • 5. Liu DP, Burrowes DM, Qureshi MN. Cyclopia: craniofacial appearance on MR and three-dimensional CT. AJNR Am J Neuroradiol. 1997 Mar;18(3):543-6.
  • 6. Källén B, Castilla EE, Lancaster PA, Mutchinick O, et al. The cyclops and the mermaid: an epidemiological study of two types of rare malformation. J Med Genet. 1992 Jan;29(1):30-5.
  • 7. Croen LA, Shaw GM, Lammer EJ. Risk factors for cytogenetically normal holoprosencephaly in California: a population-based case-control study. Am J Med Genet. 2000;90(4):320-5.8.
  • 8. Salama GS, Kaabneh MA, Al-Raqad MK, Al-Abdallah IM, et al. Cyclopia: a rare condition with unusual presentation - a case report. Clin Med Insights Pediatr. 2015 Feb 9;9:19-23.
  • 9. Ozden S, Fiçicioğlu C, Kara M, Oral O, et al. Agnathia-holoprosencephaly-situs inversus. Am J Med Genet. 2000;91(3):235-6. P10.
  • 10. Tonni G, Ventura A, Centini G, De Felice C. First trimester three-dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus. Congenit Anom (Kyoto). 2008;48(1):51-5.

A Term Fetus With Alobar Holoprosencephaly and Cyclopia: Case Report

Year 2017, Volume: 3 Issue: 3, 164 - 167, 28.09.2017

Abstract

Alobar holoprosencephaly(HPE) is a rare, severe,
complex human brain malformation.
We describe a case of cyclopia with alobar HPE identified at 40 weeks of gestation by 2-dimensional (2D)
and 3D transabdominal ultrasound (US).

A 27-year-old woman, gravida5, para4, abortion0, was
referred to our department at 40 weeks of gestation; she was experiencing labor
pains and had a nonreactive non-stress test. The mother had received no regular
antenatal care, and no sonography was performed during pregnancy. Both 2D and
3D US revealed alobar HPE and cyclopia. The baby was born by vaginal delivery
shortly thereafter and then died after birth. On examination, the face had a
single, large median eye and no nose. 





Alobar HPE and cyclopia can be diagnosed by US early
during pregnancy. Early diagnosis is important to allow for early termination
of pregnancy and to minimize the physiological and psychological impact of such
anomalies on the mother and family.

References

  • References: 1. Roach E, Demyer W, Conneally PM, Palmer C, et al. Holoprosencephaly: birth data, benetic and demographic analyses of 30 families. Birth Defects Orig Artic Ser. 1975;11(2):294-313.
  • 2. Matsunaga E, Shiota K. Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology 1977;16:261–72.
  • 3. Demyer W., Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. Confin Neurol 1963, 23:1-36
  • 4. Rathod S, Samal SK, Begum J. Holoprosencephaly with cyclopia: a rare case report. Int J Otorhinolaryngol Head Neck Surg 2015;1:37-9
  • 5. Liu DP, Burrowes DM, Qureshi MN. Cyclopia: craniofacial appearance on MR and three-dimensional CT. AJNR Am J Neuroradiol. 1997 Mar;18(3):543-6.
  • 6. Källén B, Castilla EE, Lancaster PA, Mutchinick O, et al. The cyclops and the mermaid: an epidemiological study of two types of rare malformation. J Med Genet. 1992 Jan;29(1):30-5.
  • 7. Croen LA, Shaw GM, Lammer EJ. Risk factors for cytogenetically normal holoprosencephaly in California: a population-based case-control study. Am J Med Genet. 2000;90(4):320-5.8.
  • 8. Salama GS, Kaabneh MA, Al-Raqad MK, Al-Abdallah IM, et al. Cyclopia: a rare condition with unusual presentation - a case report. Clin Med Insights Pediatr. 2015 Feb 9;9:19-23.
  • 9. Ozden S, Fiçicioğlu C, Kara M, Oral O, et al. Agnathia-holoprosencephaly-situs inversus. Am J Med Genet. 2000;91(3):235-6. P10.
  • 10. Tonni G, Ventura A, Centini G, De Felice C. First trimester three-dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus. Congenit Anom (Kyoto). 2008;48(1):51-5.
There are 10 citations in total.

Details

Journal Section Articles
Authors

Hilal Uslu Yuvaci

İlker Ali Cerci This is me

Selçuk Özden This is me

Publication Date September 28, 2017
Submission Date September 28, 2017
Acceptance Date September 6, 2017
Published in Issue Year 2017 Volume: 3 Issue: 3

Cite

APA Yuvaci, H. U., Cerci, İ. A., & Özden, S. (2017). A Term Fetus With Alobar Holoprosencephaly and Cyclopia: Case Report. Journal of Human Rhythm, 3(3), 164-167.
AMA Yuvaci HU, Cerci İA, Özden S. A Term Fetus With Alobar Holoprosencephaly and Cyclopia: Case Report. Journal of Human Rhythm. September 2017;3(3):164-167.
Chicago Yuvaci, Hilal Uslu, İlker Ali Cerci, and Selçuk Özden. “A Term Fetus With Alobar Holoprosencephaly and Cyclopia: Case Report”. Journal of Human Rhythm 3, no. 3 (September 2017): 164-67.
EndNote Yuvaci HU, Cerci İA, Özden S (September 1, 2017) A Term Fetus With Alobar Holoprosencephaly and Cyclopia: Case Report. Journal of Human Rhythm 3 3 164–167.
IEEE H. U. Yuvaci, İ. A. Cerci, and S. Özden, “A Term Fetus With Alobar Holoprosencephaly and Cyclopia: Case Report”, Journal of Human Rhythm, vol. 3, no. 3, pp. 164–167, 2017.
ISNAD Yuvaci, Hilal Uslu et al. “A Term Fetus With Alobar Holoprosencephaly and Cyclopia: Case Report”. Journal of Human Rhythm 3/3 (September 2017), 164-167.
JAMA Yuvaci HU, Cerci İA, Özden S. A Term Fetus With Alobar Holoprosencephaly and Cyclopia: Case Report. Journal of Human Rhythm. 2017;3:164–167.
MLA Yuvaci, Hilal Uslu et al. “A Term Fetus With Alobar Holoprosencephaly and Cyclopia: Case Report”. Journal of Human Rhythm, vol. 3, no. 3, 2017, pp. 164-7.
Vancouver Yuvaci HU, Cerci İA, Özden S. A Term Fetus With Alobar Holoprosencephaly and Cyclopia: Case Report. Journal of Human Rhythm. 2017;3(3):164-7.