Pascual-Castroviejo I, Casas-Fernandez C, Lopez-Martin V, Martinez-Bermejo A
Eur J Pediatr. 1977 Oct 12;126(3):127-38. doi: 10.1007/BF00442194.
Four Spanish children with clinical and radiological features corresponding to dysosteosclerosis are presented. All the children were male and belonged to the same family. The first known carrier is the maternal grandmother, who had three daughters by three different fathers who in turn had one or more sons with the disease. The four carriers were normal. Consanguinity did not occur in any case and the disorder was transmitted as a sex-linked recessive condition.
本文报告了4名具有骨硬化发育异常临床和放射学特征的西班牙儿童。所有儿童均为男性，且来自同一家族。已知的首位携带者是患儿的外祖母，她与3名不同男性育有3个女儿，这些女儿又各自育有一名或多名患病儿子。这4名携带者均表现正常。所有病例中均未出现近亲结婚情况，该疾病以X连锁隐性方式遗传。
