title: How necessary is a chromosomal analysis in growth-retarded girls?
abstract: In growth-retarded girls, shortness may be the only clinical sign of Turner syndrome. Therefore recommendations have been published that a chromosomal analysis should be carried out in every girl showing growth retardation. The present study was carried out to examine whether the head circumference of small girls can serve as a criterion and hence limit the need for expensive chromosomal analysis. The head circumferences of 45 girls with Turner syndrome were compared with those of 41 growth-retarded girls. It could be shown that the heads of the patients with Turner syndrome had a normal circumference, whereas the heads of the control group were significantly smaller. In view of this result, the risk of overlooking Turner syndrome in diagnosing growth retardation without a chromosomal analysis could be estimated to be 1:9000. The conclusion is drawn that a chromosomal analysis is not necessary in girls whose growth retardation is combined with a small head circumference and who do not show other malformations.
authors.affiliation: Universitäts-Kinderklinik, Kiel, W. Germany.
authors.forename: P
authors.initials: P
authors.lastname: Eggert
authors.forename: R
authors.initials: R
authors.lastname: Pankau
authors.forename: H D
authors.initials: HD
authors.lastname: Oldigs
mesh_terms: D002869:Chromosome Aberrations; D005260:Female; D006130:Growth Disorders / Q000209:etiology* / Q000235:genetics; D006257:Head / Q000033:anatomy & histology*; D006801:Humans; D012189:Retrospective Studies; D014424:Turner Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics