Maclean J R, Lowry R B, Wood B J
Clin Genet. 1986 Jun;29(6):523-9. doi: 10.1111/j.1399-0004.1986.tb00554.x.
A father and daughter with apparently unique clinical findings are described. The findings include persistent Wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia. Apparently it is an autosomal dominant trait. Although the disorder is in the osteogenesis imperfecta group, nevertheless it appears to be different and until the basic defect is found we have named it "The Grant Syndrome".
本文描述了一对父女具有明显独特的临床症状。这些症状包括持续性缝间骨、蓝色巩膜、下颌发育不全、肩胛盂浅以及先天性弓形腿。显然这是一种常染色体显性性状。尽管该病症属于成骨不全症范畴,但它似乎有所不同,在发现其根本缺陷之前,我们将其命名为“格兰特综合征”。