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AJR Am J Roentgenol. 1977 Jan;128(1):95-9.

Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism.

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.

PMID:
188348
DOI:
10.2214/ajr.128.1.95
[Indexed for MEDLINE]
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