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webbed neck. Other manifestations of lymphatic aplasia/hypoplasia include

lymphedema, low posterior hairline, low-set ears, and nail dysplasia. Lymphatic

abnormalities are thought to be due to haploinsufficiency of an unidentified

gene present on short arm of X chromosome (Fig. 8.7).

20. What is the clinical course of lymphedema in patients with TS?

Lymphedema is present in 25–50 % of patients with TS and usually manifests

at birth in majority (76 %) of these patients. Lymphedema commonly resolves

spontaneously by 2 years of age in most of the patients. However, it can recur

at any age thereafter, especially after initiation of rhGH or estrogen therapy.

Supportive therapy including manual massage for lymphatic drainage and com-

pression stockings is helpful in alleviating lymphedema; surgery may be

required in severe and resistant cases.

21. What are the clinical implications of presence of webbed neck in patients with TS?

Webbed neck is one of the few manifestations of TS, which is present even at

birth and hence helps in the early diagnosis. In addition, patients with webbed

neck have three times increased risk (36 % vs. 12 %) of having cardiac anoma-

lies as compared to those who do not have webbed neck.

ab

Fig. 8.7 (a) An 18-year-old female with Turner syndrome having low-set ears, webbed neck, and
multiple nevi. (b) Low hairline in another patient of Turner syndrome

8 Turner Syndrome