Szabó Nóra, Gergev Gyurgyinka, Kóbor Jeno, Szucs Péter, Túri Sándor, Sztriha László
Department of Paediatrics, Faculty of Medicine, University of Szeged, Szeged, Hungary.
J Child Neurol. 2011 Aug;26(8):1029-32. doi: 10.1177/0883073811399095. Epub 2011 Apr 22.
A retrospective population based survey of patients born with holoprosencephaly in South-Eastern Hungary between July 1, 1992 and June 30, 2006 was performed. All live birth cases with craniofacial and non-craniofacial abnormalities were included in the study. A total of 9 patients (5 boys and 4 girls) were found with holoprosencephaly among 185 486 live births, which correspond to a birth prevalence of 0.49 per 10,000 live births (95% confidence interval [CI]: 0.17-0.80). These figures were similar to those ones found in New York State and several European regions. In our series one newborn had trisomy 13. Eight patients did not have chromosomal abnormalities on routine testing, 4 of them had craniofacial abnormalities only and another 4 showed non-craniofacial anomalies as well. Three patients died in the neonatal period and another one in childhood. Patients surviving the neonatal period had intellectual and motor handicap, and epilepsy.
对1992年7月1日至2006年6月30日期间在匈牙利东南部出生的全前脑畸形患者进行了一项基于人群的回顾性调查。所有伴有颅面和非颅面异常的活产病例均纳入本研究。在185486例活产中，共发现9例（5例男孩和4例女孩）全前脑畸形患者，出生患病率为每10000例活产中有0.49例（95%置信区间[CI]：0.17 - 0.80）。这些数字与在纽约州和几个欧洲地区发现的数字相似。在我们的系列研究中，1例新生儿患有13三体综合征。8例患者在常规检测中没有染色体异常，其中4例仅患有颅面异常，另外4例还表现出非颅面异常。3例患者在新生儿期死亡，另1例在儿童期死亡。存活至新生儿期后的患者存在智力和运动障碍以及癫痫。
