We report a case of 32 weeks semilobar holoprosencephaly, diagnosed by ultrasound and verified by postmortem analysis.
📌 3 Key Takeaways
🎯
Objective & Hypothesis:Holoprosencephaly is a group clinically variable and genetically heterogenous central nervous system anomaly, caused by the incomplet clivage of the prosencephalon, characterized by mental retardation and accompanied by different midline craniofacial defects.
📊
Key Findings & Data:Holoprosencephaly is a group clinically variable and genetically heterogenous central nervous system anomaly, caused by the incomplet clivage of the prosencephalon, characterized by mental retardation and accompanied by different midline craniofacial defects.
💡
Conclusion & Impact:We report a case of 32 weeks semilobar holoprosencephaly, diagnosed by ultrasound and verified by postmortem analysis.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
Holoprosencephaly is a group clinically variable and genetically heterogenous central nervous system anomaly, caused by the incomplet clivage of the prosencephalon, characterized by mental retardation and accompanied by different midline craniofacial defects. We report a case of 32 weeks semilobar holoprosencephaly, diagnosed by ultrasound and verified by postmortem analysis.
Özet
Holoprozensefali, ilkel prozensefalon veya ön beyinin tam olmayan klivajından dolayı oluşan, mental retardasyon ve çeşitli orta hat kraniofasiyal anomaliler ile beraber gözlenen, klinik olarak değişken ve genetik olarak heterojen bir grup santral sinir sistemi anomalisidir. Sunulan çalışma ultrasonogram ile teşhis edilen ve postmortem bulgular ile doğrulanan 32 haftalık bir semilobar holoprozensefali olgusudur.
🔖
Cite This Article
ÇALIŞKAN, E., HABERAL, A., KAPLAN, M., KANDEMİR, Ö., ÖZTÜRK, N., DÖLEN, İ. (2022). Semilobar holoprosencephaly: Case report. Kadın Doğum Dergisi, Cilt: 2 - Sayı: 4, 292–293. https://ajindex.com/articles/569148
Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M. Mutation in Patched-1, the receptor for Sonic Hedgehog, are asociated with holoprosencephaly. Hum Genet 2002;110(4):297-301
Heussler HS, Suri M, Young ID, Muenke M. Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly. Arch Dis Child 2002;86(4):293-296
Blass HG, Eriksson AG, Salvesen KA, Isaksen CV, Christensen B, Mollerlokken G, Eik-Nes SH. Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Ultrasound Obstet Gynecol 2002;19(l):24-38
Moog U, De Die-Smulders CE, Schrander-Stumpel CT, Engelen JJ, Hamers AJ, Frints S, Fryns JR Holoprosencephaly: the Maastricht experience. Genet Couns 2001;12(3):287-298
Bullen PJ, Rankin JM, Robson SC. Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England. Am J Obstet Gynecol 2001;184(6):1256-1262
Barr M, Cohen MM. Autosomal recessive alobar holoprosencephaly with essentially normal faces. Am J Med Genet 2002;112(l):28-30
Cohen MM, Shiota K. Teratogenesis of holoprosencephaly. Am J Med Genet 2002;109(1):1-15
Sarnat HB, Flores-Sarnat L. Neuropathologic research strategies in holoprosencephaly. J Child Neurol 2001;16(12):918-931
Siala GS, Masmoudi A, Chennoufi MB, Jabnoun S, Ben RB, Chaabouni M, MabroukA, Neji K. Diagnosis of holoprosencephalia. Report of 17 cases. Tunis Med 2001;79(10):526-529
Tongsong T, Sirichotiyakul S, Wanapirak C, Chanprapaph P. Int J Gynaecol Obstet 2002;76(2):143-148
Ghi T, Perolo A, Banzi C, Contratti G, Valeri B, Savelli L, Morselli GP, Bovicelli L, Pilu G. Two-dimentional ultrasound is accurate in the diagnosis of the fetal craniofacial malformation. Ultrasound Obstet Gynecol 2002;19(6):543-551.