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The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis.
The patterns of length alterations in the hand bones in cases of pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and acrodysostosis were evaluated. The length of each of the hand bones was measured and compared to appropriate means for age and sex. The pattern profiles thus generated showed that those for PHP and PPHP are almost identical, and are similar to that seen in acrodysostosis, except for the much smaller size of the bones seen in the latter condition. PHP and PPHP are probably differend manifestations of the same entity, and acrodysostosis may also be related to them. Brachydactyly E is indistinguishable radiologically from the PHP-PPHP syndrome.
PMID: 870942 [PubMed - indexed for MEDLINE]
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Cited by 5 PubMed Central articles
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ReviewBrachydactyly.
Temtamy SA, Aglan MS.
Orphanet J Rare Dis. 2008 Jun 13; 3:15. Epub 2008 Jun 13.
[Orphanet J Rare Dis. 2008]
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Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis.
Wilson LC, Oude Luttikhuis ME, Baraitser M, Kingston HM, Trembath RC.
J Med Genet. 1997 Feb; 34(2):133-6.
[J Med Genet. 1997]
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Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.
Wilson LC, Leverton K, Oude Luttikhuis ME, Oley CA, Flint J, Wolstenholme J, Duckett DP, Barrow MA, Leonard JV, Read AP.
Am J Hum Genet. 1995 Feb; 56(2):400-7.
[Am J Hum Genet. 1995]
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