title: Radiologic changes in infancy in McKusick cartilage hair hypoplasia.
abstract: Cartilage hair hypoplasia (CHH), or metaphyseal dysplasia McKusick type, classically comprises short stature and scant fine hair. In this skeletal dysplasia there is a high incidence of immune deficiency and Hirschsprung disease, as well as a higher rate of malignancy. Clinical findings may be subtle in young children, and radiographic changes may be elusive. We present four children below age 2 in whom the clinical diagnosis of CHH was confirmed radiographically. We emphasize radiologically and clinically discernable anterior angulation of the entire sternum, a sign not previously described in this dysplasia.
authors.affiliation: Department of Diagnostic Imaging and Radiology, Children's National Medical Center and the George Washington University School of Medicine and Health Sciences, Washington, DC, USA. ronald_glass@smtplink.mssm.edu
authors.forename: R B
authors.initials: RB
authors.lastname: Glass
authors.forename: C J
authors.initials: CJ
authors.lastname: Tifft
mesh_terms: D002356:Cartilage / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography; D013577:Syndrome