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6. What are the manifestations of SHOX insufficiency?

Two copies of SHOX gene are normally expressed in males as well as in

females. As SHOX regulates skeletal growth and development, its

haploinsufficiency results in short stature and overdose results in tall stature

(e.g., Klinefelter’s syndrome 47, XXY). The skeletal manifestations of

SHOX insufficiency include short stature, short neck, short metacarpals/

metatarsals, cubitus valgus, mesomelia, Madelung wrist deformity, high-

arched palate, micrognathia, and abnormal auricular development (Figs. 8.3

and 8.4).

a

b

Fig. 8.3 (a) “Clinched
fist” sign to demonstrate
short third, fourth, and fifth
metacarpals. (b) X-ray of
hand showing short
metacarpals in the same
patient

8 Turner Syndrome