Case Report

Identification of a Novel Mutation in a Pseudohypoparathyroidism Family

Figure 1

(a) The proband appeared short, obese, and face round. (b) The proband’s hands. (c) The proband’s feet. (d) Feet of the proband’s mother. (e) An X-ray of patient’s right hand showing that her metacarpals and phalanges are generally shortened. The both ends of the twice-fifth metacarpals are enlarged. The first distal phalanx, twice-fifth middle phalanges and twice-fifth distal phalanges are thickened. (f) The X-ray of the patient’s right foot showing that her metatarsus and phalanges are generally shortened, especially the first metatarsus and phalanx. The distal ends of the first metatarsus, first phalanx, and twice-fifth phalanges are enlarged. The proximal ends of the first phalanx and twice-fifth phalanges are widened. (g) The feet of the patient’s mother looked normal; however, an X-ray of her right foot showed that she had a similar, but less severe, phenotype to her daughter.
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