Grutzner E, Gorlin R J
University of Minnesota, Minneapolis.
Oral Surg Oral Med Oral Pathol. 1988 Apr;65(4):436-44. doi: 10.1016/0030-4220(88)90358-1.
The phenotype and pattern of inheritance of craniofrontonasal dysplasia were analyzed in 66 affected persons from 18 families, including one four-generation kindred personally studied. Females were more severely affected than males. Affected females had hypertelorism, broad nasal root, frontal bossing, craniosynostosis, syndactyly of toes and fingers, and vertical grooving of nails. Males had increased bony interorbital distances and distances between the inner canthi of the eyes, broad nasal root, broad halluces, and vertical grooving of nails but no craniosynostosis. Affected men transmitted the condition to all of their daughters but to no sons, while affected women transmitted the disorder to about half their daughters and half their sons. This pattern is compatible with X-linked dominant inheritance, but the far milder manifestation of the syndrome in males cannot be explained by simple mendelian genetics.
对来自18个家庭的66名颅额鼻发育异常患者的表型和遗传模式进行了分析，其中包括一个亲自研究的四代家族。女性受影响比男性更严重。受影响的女性有眼距过宽、鼻根宽阔、额部隆起、颅缝早闭、手指和脚趾并指以及指甲垂直沟纹。男性眶间骨距离和内眦间距增加、鼻根宽阔、拇趾宽大以及指甲垂直沟纹，但无颅缝早闭。患病男性将该病传给了所有女儿，但没有传给儿子，而患病女性将该病传给了大约一半的女儿和一半的儿子。这种模式符合X连锁显性遗传，但该综合征在男性中表现远为轻微，无法用简单的孟德尔遗传学来解释。
