Maclachlan A K, Gerrard J W, Houston C S, Ives E J
Can Med Assoc J. 1984 May 1;130(9):1172-4.
Infantile cortical hyperostosis is a rare proliferative bone disease affecting infants under the age of 6 months. In 1961 a large family of French-Canadian origin in which 14 children in three generations were affected was described. Since then 20 new cases have been found in this family. This is the largest familial aggregation of this disease reported in the literature to date. On the basis of the findings in this pedigree, the familial form of the disease appears to be transmitted by a single autosomal dominant gene with incomplete penetrance and variable expressivity.
婴儿皮质增生症是一种罕见的增生性骨病，影响6个月以下的婴儿。1961年，描述了一个法裔加拿大人的大家庭，三代人中14名儿童患病。从那时起，这个家族又发现了20例新病例。这是迄今为止文献报道中该疾病最大的家族聚集病例。根据这个家系的研究结果，该疾病的家族形式似乎由单个常染色体显性基因传递，具有不完全显性和可变表达。
