[Menkes syndrome with excessive skeletal changes].
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.
D001497:Battered Child Syndrome; D001842:Bone and Bones / Q000000981:diagnostic imaging; D001928:Brain Diseases, Metabolic / Q000000981:diagnostic imaging*; D003937:Diagnosis, Differential; D050723:Fractures, Bone / Q000000981:diagnostic imaging* / Q000209:etiology / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology; D011859:Radiography
Menkes-Syndrom mit exzessiven Skelettveränderungen.