Wendler H, Mutz I
Rofo. 1985 Sep;143(3):351-5. doi: 10.1055/s-2008-1052822.
An infant was seen for multiple fractures at the age of 10 weeks. He developed marked cortical thickening of many bones, which raised the suspicion of a battered child syndrome. Unusual progression of bone thickening and hitherto undescribed excessive bone remodeling led to the diagnosis of Menkes'kinky hair disease, a disorder of the connective tissue caused by a decreased copper bioavailability, to which disease the infant finally succumbed.
一名10周大的婴儿因多处骨折前来就诊。他出现了许多骨骼明显的皮质增厚，这引发了对受虐儿童综合征的怀疑。骨骼增厚的异常进展以及此前未描述过的过度骨重塑导致了门克斯卷发综合征的诊断，这是一种由铜生物利用度降低引起的结缔组织疾病，该婴儿最终死于这种疾病。
