Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Clin Genet. 2007 Mar;71(3):280-4. doi: 10.1111/j.1399-0004.2007.00768.x.
Infantile cortical hyperostosis (ICH) is an inherited disorder characterized by hyperirritability, acute inflammation of soft tissues, and massive subperiosteal new bone formation. It typically appears in early infancy and is considered a benign self-limiting disease. We report a three-generation Thai family with ICH, the oldest being a 75-year-old man. A heterozygous mutation for a 3040C-->T in exon 41 of COL1A1 was found in affected individuals, further confirming the autosomal dominance of Caffey disease that is caused by this particular mutation. The novel findings in our studies include short stature and persistent bony deformities in the elderly. The height mean Z-score of the five affected individuals was -1.75, compared to 0.53 of the other seven unaffected individuals giving a p-value of 0.008. Short stature may be partly due to progressive height loss from scoliosis, compression fractures of the spine and genu varus. These features, which have not previously been described, expand the phenotypic spectrum of the Caffey disease.
婴儿皮质增生症（ICH）是一种遗传性疾病，其特征为易激惹、软组织急性炎症以及大量骨膜下新骨形成。它通常在婴儿早期出现，被认为是一种良性自限性疾病。我们报告了一个患有ICH的三代泰国家族，家族中年龄最大的是一位75岁男性。在患病个体中发现了COL1A1基因第41外显子3040C→T的杂合突变，进一步证实了由该特定突变引起的卡菲病的常染色体显性遗传。我们研究中的新发现包括身材矮小以及老年人持续存在的骨骼畸形。五名患病个体的身高平均Z值为-1.75，而另外七名未患病个体的身高平均Z值为0.53，p值为0.008。身材矮小可能部分归因于脊柱侧弯、脊椎压缩性骨折和膝内翻导致的身高逐渐降低。这些此前未被描述的特征扩展了卡菲病的表型谱。
