Burck U, Held K R, Kitschke H J
Am J Med Genet. 1982 Apr;11(4):443-8. doi: 10.1002/ajmg.1320110409.
As holoprosencephaly without chromosome defect may be associated with other CNS-related anomalies such as mental retardation, mental illness, facial paralysis, endocrine disorders, deafness, spina bifida, and myelomeningocele, we present a family in which one girl had a myelomeningocele, a brother had orbital hypotelorism, facial and cerebral asymmetries, cerebral palsy, abducens paralysis, and inner ear deafness. A 3rd pregnancy was terminated at 16 weeks; the fetus had cyclopia. A common cause is discussed in these cases and in those families in which holoprosencephaly and additional malformations occur among different generations.
由于无染色体缺陷的前脑无裂畸形可能与其他中枢神经系统相关异常有关，如智力迟钝、精神疾病、面瘫、内分泌失调、耳聋、脊柱裂和脊髓脊膜膨出，我们报告一个家庭，其中一个女孩患有脊髓脊膜膨出，一个男孩有眼眶距过窄、面部和大脑不对称、脑瘫、外展神经麻痹和内耳耳聋。第三次怀孕在16周时终止；胎儿患有独眼畸形。本文讨论了这些病例以及在不同代人中出现前脑无裂畸形和其他畸形的家庭中的共同病因。
