A girl with two syndromes: Turner syndrome and Costello syndrome. A case history

摘要

TO THE EDITOR:Turner syndrome (TS, OMIM#300706) is a well-defined chromosomal disorder characterized by short stature, gonadal dysgenesis (lack of spontaneous pubertal development), and somatic stigmata [Nielsen and Wohlert, 1991] associated with complete or partial absence of the second X chromosome. Patients with a small distal short arm deletion (Xp-) including the SHOX gene frequently have short stature and other TS associated skeletal anomalies, but most are at low risk of ovarian failure and generally should not be diagnosed with TS if band Xp22.3 is not deleted [Ross et al, 2001 ].