[Metaphyseal chondrodysplasia].
Metaphyseal chondrodysplasia (MCD) is a heterogeneous group of diseases characterised by defective enchondral ossification, leading to metaphyseal changes. The different types of MCD can be distinguished by clinical findings, radiology and genetic tests. Based on a case story with MCD, pancreatic insufficiency and granulocytopenia (Shwachman's syndrome), we review the most common types of MCD with regard to clinical manifestations, radiological findings, and genetic background.
Arhus Universitetshospital, Arhus Kommunehospital, paediatrisk afdeling.
M
M
Dahl
N H
NH
Birkebaek
J
J
Rungby
T
T
Herlin
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D006621:Hip Joint / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D013577:Syndrome
Metafysaer kondrodysplasi.