The patient whose hands are developmentally delayed with a short, stocky build. Which of the following is the most likely diagnosis?
(d) Source: (Felig, pp. 1143-1145)The deformity of the hands is due to short metacarpals. Other deformities include short metatarsals, round facies, and thickening of the calvarium. The syndrome is caused by target organ unresponsiveness to PTH, and was the first hormone resistance syndrome described.
achondroplastic dwarf
Down syndrome
Klinefelter's syndrome
pseudohypoparathyroidism
Endocrinology