Brachymetatarsia as an early clue to Turner Syndrome

Brachymetatarsia as an Early Clue to Turner Syndrome Key clinical messageCongenital anomalies of the extremities, particularly bilateral toe or finger malformations, may provide an early and valuable clue to an underlying genetic disorder and should prompt further diagnostic evaluation. Case presentationA 21-year-old woman presented to the gynecology department for primary amenorrhea.She had no notable medical or surgical history.She was a twin; her sister non-identical had normal pubertal development and menarche at 12 years.On clinical examination, the patient's height was 150 cm, and her pubertal development was Tanner S3 for breast development and P3 for pubic hair.External genital examination revealed a normal vulva.