Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism.
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.
D000328:Adult; D002648:Child; D000242:Cyclic AMP / Q000652:urine; D005260:Female; D006801:Humans; D009667:Nose Deformities, Acquired; D009999:Ossification, Heterotopic / Q000150:complications* / Q000000981:diagnostic imaging; D011547:Pseudohypoparathyroidism / Q000150:complications* / Q000000981:diagnostic imaging; D011556:Pseudopseudohypoparathyroidism / Q000150:complications* / Q000000981:diagnostic imaging; D011859:Radiography
D000242:Cyclic AMP