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  • Title: Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism.
    Author: Ablow RC, Hsia YE, Brandt IK.
    Journal: AJR Am J Roentgenol; 1977 Jan; 128(1):95-9. PubMed ID: 188348.
    Abstract:
    The diagnosis of acrodysostosis has been differentiated from that of pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism by the absence of endocrine abnormalities, more generalized osseous abnormalities, and a characteristic facial appearance. Two cases are presented which fulfill all of the major features of acrodysostosis: peripheral dysostosis, nasal hypoplasia (pug nose), and mental retardation. The first case had all the metabolic abnormalities of pseudohypoparathyroidism; the second case had urinary cyclic adenosine-3',5'-monophosphate findings suggestive of pseudo-pseudohypoparathyroidism. Therefore acrodysostosis cannot be differentiated from pseudohypoparathyroidism or pseudopseudohypoparathyroidism on clinical and radiologic features only.
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