Siggers D C, Burke J B, Morris B, Normand I C, Tanner J M, Williamson D A
Postgrad Med J. 1977 Aug;53(622):473-9. doi: 10.1136/pgmj.53.622.473.
Six cases of cartilage hair hypoplasia from five kindreds are described. They demonstrate variation in the expression of clinical features such as sparsity of hair, hair calibre, radiological changes, short stature and the extent of the disproportion between sitting height and stature.
本文描述了来自五个家族的6例软骨毛发发育不全病例。这些病例展示了临床特征表达的差异,如毛发稀疏、毛发粗细、放射学改变、身材矮小以及坐高与身高之间的不成比例程度。