Lischka A, Frisch H, Weissenbacher G
Monatsschr Kinderheilkd. 1984 Jul;132(7):550-3.
A ten year old boy with parents of Rumanian and Turkish origin suffered from metaphyseal chondrodysplasia (McKusick type) with typical radiological changes of the metaphyseal endplates. Microscopic examination of his hair revealed only slight diminution of its thickness, and signs of increased brittleness. Because of Hirschsprung's disease resection of colon was performed. No immunologic changes were found.
一名十岁男孩,其父母来自罗马尼亚和土耳其,患有干骺端软骨发育不良(麦库西克型),干骺端终板有典型的放射学改变。对其头发进行显微镜检查,仅发现头发厚度略有减小以及变脆迹象。因患有先天性巨结肠症,对结肠进行了切除。未发现免疫方面的变化。