[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.
Dahl
M
M
Arhus Universitetshospital, Arhus Kommunehospital, paediatrisk afdeling.
Birkebaek
N H
NH
Rungby
J
J
Herlin
T
T
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.