Benz G, Schmid-Rüter E
Pediatr Radiol. 1977 Mar 17;5(3):164-71. doi: 10.1007/BF00973984.
A 6-year follow-up of a Greek girl with pycnodysostosis associated with heterozygous beta-thalassemia is reported. Active rickets in infancy was superimposed on pycnodysostosis. In the family the autosomal recessive disease, pycnodysostosis, appeared in two of three siblings in combination with the autosomal dominant disease, thalassemia minor.
报道了一名患有致密性骨发育不全并伴有杂合子β地中海贫血的希腊女孩的6年随访情况。婴儿期的活动性佝偻病叠加于致密性骨发育不全之上。在这个家族中，常染色体隐性疾病致密性骨发育不全在三个兄弟姐妹中的两个身上出现，并伴有常染色体显性疾病轻度地中海贫血。
