Turner syndrome with Madelung deformity, complex brachydactyly and ankylosing spondylitis: A case report / 中华骨科杂志

ABSTRACT

Turner syndrome (TS) complicated with Madelung deformity and complex brachydactyly are rare clinically, and it is even rarer to combine with ankylosing spondylitis (AS). This article reports a case of a 36 year-old female patient who was admitted to the hospital with "ankylosing spondylitis" due to repeated back, hip and knee pain for 11 years and aggravated for 1 month. After admission, the karyotype showed "46, X, i (Xq)" due to short stature, dysplasia of secondary sexual characteristics, limb deformity etc, thus confirming TS. Further examination revealed bilateral Madelung deformity and complex brachydactyly characterized by shortening of the fourth metacarpal, multiple missing and shortened middle phalanxes. By reviewing the relevant literature, we believe that autoimmune diseases such as AS should be excluded in TS patients. TS aggravates the inflammatory response of AS, but the combination of TS and AS is more likely to be an accidental event. Patients with Madelung deformity should be careful to exclude TS. Madelung deformity and shortening of the fourth metacarpal are mainly associated with haploinsufficiency of SHOX gene. Brachydactyly characterized by multiple loss and shortening of the middle phalanx may be a new clinical manifestation of TS, especially the karyotype of 46, X, i (Xq). It is possible that there are some genes on the short arm of X chromosome, which regulate the number, growth and development of fingers. Early estrogen replacement therapy can greatly benefit patients.