Rowlatt U, Pruzansky S
Cleft Palate J. 1980 Jul;17(3):197-204.
This four-day-old male infant with holoprosencephaly and facial dysmorphia resembled other cases in that he had several severe extracranial malformations but unusual in that such infants often have an abnormal chromosome pattern, most frequently a trisomy 13. Our patient had a normal karyogram. He differed also in having a lobar rather than an alobar type of holoprosencephaly, which is the more usual form in association with this degree of facial anomaly. A synechia between the lips on one side and segmented double spinal cord (diastematomyelia) are rare lesions in this or any other condition. This infant illustrates the principle that holoprosencephaly and facial dysmorphia together are a symptom complex that may be part of another syndrome rather than a disease in its own right.
这名患有前脑无裂畸形和面部畸形的4日龄男婴，与其他病例相似之处在于他有 several severe extracranial malformations，但不同寻常的是，此类婴儿通常有异常的染色体模式，最常见的是13三体。我们的患者核型正常。他的不同之处还在于患有叶型而非半叶型前脑无裂畸形，而在这种程度的面部异常中，半叶型更为常见。一侧嘴唇粘连和脊髓纵裂在这种或任何其他情况下都是罕见的病变。这名婴儿说明了一个原则，即前脑无裂畸形和面部畸形共同构成一种症状复合体，可能是另一种综合征的一部分，而不是一种独立的疾病。
