全前脑综合征—11例报告

Holoprosencephaly syndrome-11 cases report.

目的探讨全前脑综合征(HPE)的临床病理特点。方法回顾性研究11例HPE病例。以病理解剖、B超所见及临床文字描述为诊断依据。结果我院21年间HPE的发生率为0.1176‰;性别比例为男:女=1∶10;HPE临床分类:Ⅰ型-独眼型4例(36.36%),Ⅱ型-筛骨发育不良型2例(18.18%),Ⅲ型-猴头型4例(36.36%),Ⅳ型-颌骨发育不良型(9.09%);病理解剖学分型:无叶全前脑8例,半叶全前脑2例,叶状全前脑1例;伴随疾病:心血管畸形9例,先天性脑积水7例,脐疝、肾盂积水、小头畸形各2例,先天性多囊肾、孤立肾、耳部畸形各1例,指、趾畸形5例。结论全前脑常合并有其他严重畸形,死亡率高;女性胎儿患有此畸形的风险明显高于男性胎儿。

Objective： To study the clinical pathology characters of the Holoproseneephaly syndrome （HPE）. Methods： Retrospective study the 11 HPE cases of the 1286 autopsy during 21 years in our hospital. The diagnosis was founded on the autopsy, ultrasonic inspection and clinical records. Results： The incidence of HEP in our hospital was 0. 1176‰ （11/1286）, and compared man with woman, the sex ratio was 1 ： 10. The clinical grade： Type Ⅰ - cyclopia, Type Ⅱ - Ethmocephaly , Type Ⅲ - cebocephaly and Type Ⅳ - premaxillary agenesis were 4 cases （36. 36% ）, 2 cases （ 18. 18% ）, 4 cases （36. 36% ） and 1 case （9. 09% ） separately. The number of pathoana - tomical typing was 8 alobar holoprosencephaly, 2 semilobar ho - loproseneephaly and 1 plbar holoprosencephaly. There were some syndromes with HPE, such as malformations of the heart and vessels （ 9 cases）, congenital hydrocephalus （7cases）, exomphalos （2cases）, hydronephrosis （2cases）, microcephalus （2 cases ）, congenital polycystie kidney, solitary kidney, malformations of ears and malformations of dactylies （5 cases） . Conclusion： HPE , often accompanied by other severe abnormalities, has a high mortality. And the HPE risk of female is extremely higher than that of male.