van der Wal K G, Wiebe Mulder J
Department of Oral and Maxillofacial Surgery, Medisch Centrum Leeuwarden, The Netherlands.
Int J Oral Maxillofac Surg. 1993 Feb;22(1):39-41. doi: 10.1016/s0901-5027(05)80354-6.
A patient with median cleft lip is reported, but the patient showed no evidence of holoprosencephaly, which was ruled out by MRI. When the neonate's head circumference is within two standard deviations of the mean and normotelorism occurs with median cleft lip, it can be assumed that the brain is not holoprosencephalic. The importance of this cannot be overemphasized because median cleft lip is commonly associated with holoprosencephaly and severe microcephaly. The mother developed overt diabetes mellitus after the patient was born. However, infants of diabetic mothers are known to be at increased risk of giving birth to infants with holoprosencephaly. Since a prediabetic woman may sometimes give birth to large and/or malformed infants before developing overt diabetes mellitus, it is intriguing to speculate that the prediabetic state might have resulted in a forme fruste of holoprosencephaly, affecting, in this case, only the face and not the brain.
本文报道了一名患有正中唇裂的患者，但该患者未显示出全前脑畸形的迹象，MRI已排除该病症。当新生儿头围在均值的两个标准差范围内，且正中唇裂伴有正常的两眼间距时，可以假定大脑没有全前脑畸形。这一点的重要性再怎么强调也不为过，因为正中唇裂通常与全前脑畸形和严重小头畸形相关。患者出生后，其母亲患上了显性糖尿病。然而，众所周知，糖尿病母亲的婴儿患全前脑畸形婴儿的风险会增加。由于糖尿病前期女性有时可能在发展为显性糖尿病之前就生下巨大和/或畸形婴儿，因此推测糖尿病前期状态可能导致了全前脑畸形的一种不完全形式，在这种情况下，仅影响面部而不影响大脑，这很有意思。
