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Acrodysostosis

Known as: ACRDYS1, ACRDYS2, Peripheral Dysostosis 
National Institutes of Health

Related topics

Related topics

3 relations

Broader (3)

DysostosesIntellectual DisabilityOsteochondrodysplasias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Exome Sequencing Identifies PDE 4 D Mutations in Acrodysostosis
Acrodysostosis is a dominantly-inherited, multisystem disorder characterized by skeletal, endocrine, and neurological… 
1992
1992
Familial acrodysostosis: can it be distinguished from Albright's hereditary osteodystrophy?
A girl, who presented initially to the orthodontist because of anterior and posterior open-bite, was noted to have short stature… 
1991
1991
Acrodysostosis in two generations: an autosomal dominant syndrome
Acrodysostosis is a rare syndrome characterized by growth retardation, peripheral dysostosis and mental deficiency. X‐rays reveal… 
1991
1991
Epiphyseal stippling in acrodysostosis.
Widespread epiphyseal stippling was demonstrated radiologically during the early months of life in 7 children with acrodysostosis… 
Review
1988
Review
1988
Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis.
We report on a 13-yr-old boy with acrodysostosis, a review of 30 cases in the literature, and metacarpophalangeal pattern profile… 
1979
1979
Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease - The conorenal syndromes
The phalangeal cone shaped epiphysis of the hands (PhCSEH1) observed in the extended Saldino-Mainzer syndrome (SMS), including… 
1977
1977
Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism
The diagnosis of acrodysostosis has been differentiated from that of pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism… 
1977
1977
Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism.
The diagnosis of acrodysostosis has been differentiated from that of pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism… 
1971
1971
Sotos' Syndrome (Cerebral Gigantism) with Peripheral Dysostosis
A girl had short stumpy hands and feet due to osseous dystrophy; in other respects she showed all the main and many of the minor… 
1969
1969
Roentgenographic manifestations of hereditary peripheral dysostosis.
The occurrence of a genetic type of peripheral dysostosis is described. Both the extreme variation in the roentgenographic… 
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