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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.
Highly Cited
2013
Highly Cited
2013
Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis
Acrodysostosis is characterized by nasal hypoplasia, peripheral dysostosis, variable short stature, and intellectual impairment… 
Highly Cited
2012
Highly Cited
2012
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
CONTEXT Acrodysostosis is a rare skeletal dysplasia that is associated with multiple resistance to G protein-coupled receptor… 
Review
2012
Review
2012
Acrodysostosis syndromes.
Acrodysostosis (ADO) refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including… 
Highly Cited
2011
Highly Cited
2011
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.
The skeletal dysplasia characteristic of acrodysostosis resembles the Albright's hereditary osteodystrophy seen in patients with… 
Highly Cited
1977
Highly Cited
1977
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… 
1977
1977
Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism
The diagnosis of acrodysostosis has been differentiated from that of pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism… 
1972
1972
Neonatal hyperthyroidism with accelerated skeletal maturation, craniosynostosis, and brachydactyly.
Case reports of two premature siblings with hyperthyroidism are presented. Each child showed markedly advanced bone age at birth… 
Highly Cited
1971
Highly Cited
1971
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.
Acrodysostosis, a rare congenital malformation syndrome, is described on the basis of nine new cases and 11 cases from the… 
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… 
Highly Cited
1964
Highly Cited
1964
PREMATURE FUSION OF EPIPHYSES IN COOLEY'S ANEMIA.
Premature fusion of one or more epiphyses is an uncommon anomaly. It may occur as a complication of infection or trauma involving… 
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