Abstract
Semilobar Holoprosencephaly: Case Report
Holoprosencephaly (HPE) is a congenital anomaly of central nervous system caused by the impaired midline cleavage of the prosencephalon known as forebrain. It is associated with facial anomalies in most cases. The entity is present in 1 in 5200 to 16000 liveborn birth. Since the prognosis is poor in most cases, early diagnosis is critical in prevention of maternal morbidity and psychological trauma .
Holoprozensefali ön beyin olarak bilinen prozensefalonun yanklanma eksikliği ile seyreden konjenital bir santral sinir sistemi anomalisidir. Sıklıkla yüz anomalileriyle birliktedir. Görülme sıklığı 5200 ile 16000 canlı doğumda birdir. Çoğu olguda prognoz kötü olduğundan erken tanı, maternal morbidite ve psikolojik travmanın önlenmesi için önemlidir.
Keywords
References
- Blass HG, Eriksson AG, Salvesen KA, et al. Brains and faces inholoprosencephaly: pre-and postnatal description of 30cases. Ultrasound Obstet Gynecol 2002; 19: 24–38.
- Cohen MM, Sulik K. Perspectives on holoprosencephaly: Part II.Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies. J Craniofac Genet Dev Biol 1992; 12: 196–244.
- Chen CP, Chern SR, Lin CJ, et al. A comparison of maternal age, sex ratio and associated anomalies among numerically aneuploid, structurally aneuploid and euploid holoprosencephaly. Genet Couns. 2005; 16: 49–57.
- Tongsong T, Wanapirak C, Chanprapaph P, et al. First trimester sonographic diagnosis of holoprosencephaly. Int J Gynaecol Obstet. 1999; 66: 165–169.
- Hsu TY, Chang SY, Ou CY, et al. First trimester d i a g n o s i s of holoprosencephaly and cyclopia with triploidy by transvaginal three-dimensional u l t r a s o n o g r a p h y . Eur J Obstet Gynecol Reprod Biol. 2001; 96: 235–237.
- Sepulveda W, Dezerega V, Be C. First-trimester s o n o g r a p h i c diagnosis of holoprosencephaly: value of the “butterfly” sign. J Ultrasound Med. 2004; 23: 761- 5; quiz 766–767.
Abstract
References
- Blass HG, Eriksson AG, Salvesen KA, et al. Brains and faces inholoprosencephaly: pre-and postnatal description of 30cases. Ultrasound Obstet Gynecol 2002; 19: 24–38.
- Cohen MM, Sulik K. Perspectives on holoprosencephaly: Part II.Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies. J Craniofac Genet Dev Biol 1992; 12: 196–244.
- Chen CP, Chern SR, Lin CJ, et al. A comparison of maternal age, sex ratio and associated anomalies among numerically aneuploid, structurally aneuploid and euploid holoprosencephaly. Genet Couns. 2005; 16: 49–57.
- Tongsong T, Wanapirak C, Chanprapaph P, et al. First trimester sonographic diagnosis of holoprosencephaly. Int J Gynaecol Obstet. 1999; 66: 165–169.
- Hsu TY, Chang SY, Ou CY, et al. First trimester d i a g n o s i s of holoprosencephaly and cyclopia with triploidy by transvaginal three-dimensional u l t r a s o n o g r a p h y . Eur J Obstet Gynecol Reprod Biol. 2001; 96: 235–237.
- Sepulveda W, Dezerega V, Be C. First-trimester s o n o g r a p h i c diagnosis of holoprosencephaly: value of the “butterfly” sign. J Ultrasound Med. 2004; 23: 761- 5; quiz 766–767.
Details
| Primary Language | English |
|---|---|
| Journal Section | Basic Medical Sciences |
| Authors | |
| Publication Date | December 30, 2009 |
| Submission Date | October 23, 2009 |
| Published in Issue | Year 2006 Volume: 23 Issue: 4 |
Cite
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.