Hennekam R C, Beemer F A, Van Merrienboer F, Van Ketel B A, Kramer P P
Clinical Genetics Center, Utrecht, The Netherlands.
Am J Med Genet Suppl. 1986;2:45-52. doi: 10.1002/ajmg.1320250608.
We describe a median "cleft" face anomaly (MCFA) with congenital hypothalamic hamartoma in a newborn girl. The MCFA was associated with a frontal midline skull lipoma and a complex congenital heart defect. Possible pathogenetic mechanisms are discussed, and a review of the pertinent literature is given. It is concluded that probably all malformations in our patient are disturbances of a single developmental field defect, ie, the midline.
我们描述了一名患有先天性下丘脑错构瘤的新生儿女孩的正中“裂”面畸形（MCFA）。MCFA与额部中线颅骨脂肪瘤及复杂先天性心脏缺陷相关。讨论了可能的发病机制，并对相关文献进行了综述。得出的结论是，我们患者的所有畸形可能都是单一发育场缺陷即中线的紊乱。
