|1.||Silve, Caroline: 4 articles (11/2015 - 06/2011)|
|2.||Linglart, Agnès: 3 articles (11/2015 - 06/2011)|
|3.||Clauser, Eric: 3 articles (11/2015 - 06/2011)|
|4.||Auzan, Colette: 2 articles (11/2015 - 06/2011)|
|5.||Couvineau, Alain: 2 articles (11/2015 - 06/2011)|
|6.||Niikawa, Norio: 2 articles (11/2014 - 09/2007)|
|7.||Nii, Eiji: 2 articles (11/2014 - 09/2007)|
|8.||Jin, Dong-Kyu: 2 articles (11/2014 - 10/2014)|
|9.||Nishimura, Gen: 2 articles (11/2014 - 10/2014)|
|10.||Kim, Ok-Hwa: 2 articles (11/2014 - 10/2014)|
01/01/2001 - "Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism."
05/01/2015 - "Acrodysostosis: A new form of pseudohypoparathyroidism?"
10/01/2014 - "We report on the clinical, radiological, and molecular findings of five female patients with acroscyphodysplasia; two were diagnosed as pseudohypoparathyroidism (PHP) or Albright hereditary osteodystropy, and the other three as acrodysostosis. "
10/01/2014 - "Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2."
01/01/2001 - "Both our index patients with acrodysostosis had normal bioactivity of the alpha subunit of the Gs protein, therefore indicating that acrodysostosis has a different pathogenesis from pseudohypoparathyroidism. "
12/01/2013 - "Acrodysostosis is characterized by a peripheral dysostosis that is accompanied by short stature, midface hypoplasia, and developmental delay. "
01/01/2013 - "Acrodysostosis is characterized by nasal hypoplasia, peripheral dysostosis, variable short stature, and intellectual impairment. "
09/01/2012 - "Acrodysostosis refers to a group of rare skeletal dysplasias that share in common characteristic clinical and radiological features including brachydactyly, facial dysostosis, and nasal hypoplasia. "
04/06/2012 - "Acrodysostosis is a rare autosomal-dominant condition characterized by facial dysostosis, severe brachydactyly with cone-shaped epiphyses, and short stature. "
06/01/2007 - "Acrodysostosis is an extremely rare disorder characterized by short stature and peripheral dysostosis. "
|3.||Mental Retardation (Idiocy)
01/01/2015 - "The importance of PDE4D for human cognition is underscored by the recent discovery of PDE4D mutations in acrodysostosis (ACRDY2: MIM 600129), an ultra rare disorder associated with intellectual disability. "
01/01/2014 - "Our findings indicate that haploinsufficiency of PDE4D results in a novel intellectual disability syndrome, the 5q12.1-haploinsufficiency syndrome, with several opposing features compared with acrodysostosis that is caused by dominant negative mutations. "
01/01/2014 - "We identified three novel and two previously described PDE4D point mutations in the acrodysostosis patients and two deletions and one duplication involving PDE4D in three patients suffering from an intellectual disability syndrome with low body mass index, long fingers, toes and arms, prominent nose and small chin. "
01/01/2014 - "Point mutations in PDE4D have been recently linked to acrodysostosis, an autosomal dominant disorder with skeletal dysplasia, severe brachydactyly, midfacial hypoplasia and intellectual disability. "
09/05/2007 - "Acrodysostosis is a rare congenital anomaly syndrome characterized by peculiar facial appearance with a small nose and an open mouth, short stature, short metacarpotarsal, and phalangeal bones with cone-shaped epiphyses, advanced bone-age, and variable degrees of mental retardation. "
|4.||Spinal Stenosis (Stenosis, Spinal)
01/01/2001 - "The pattern of brachydactyly differs between these two conditions, and varying degrees of spinal stenosis are characteristic of acrodysostosis. "
01/01/2001 - "Spinal stenosis is an underappreciated risk in acrodysostosis, despite the reported loss of normal caudal widening of the lumbar interpediculate distance on AP spine radiographs in the original report of this disorder by Robinow et al., with confirmation of these radiographic findings by Butler et al. We report two sporadic cases of acrodysostosis, one of which required decompressive laminectomy for symptomatic spinal stenosis, and review 11 cases of acrodysostosis from 9 families that were submitted to the International Skeletal Dysplasia Registry. "
09/01/2014 - "We report one additional adult case that presented with signs of spinal cord compression from spinal stenosis, and make the first histologic description in the literature of the bony anomalies seen in acrodysostosis. "
01/01/2001 - "These radiographic and laboratory findings substantiate that acrodysostosis is clinically different from pseudohypoparathyroidism and that it is necessary to follow patients with acrodysostosis for signs of spinal stenosis."
01/01/2001 - "The objective of this report is to determine the frequency and severity of spinal stenosis in patients with acrodysostosis and to summarize the clinical and radiographic findings of acrodysostosis in an effort to distinguish acrodysostosis clearly from pseudohypoparathyroidism. "
06/01/1977 - "The patterns of length alterations in the hand bones in cases of pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and acrodysostosis were evaluated. "
01/01/2013 - "PDE4D encodes a cyclic AMP regulator and places PDE4D-related acrodysostosis within the same family of diseases as pseudohypoparathyroidism, pseudopseudohypoparathyroidism, PRKAR1A-related acrodysostosis and brachydactyly-mental retardation syndrome; all characterized by cognitive impairment and short distal extremities."
01/01/2012 - "The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting with Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). "
|1.||Albright's hereditary osteodystrophy
|3.||Human Growth Hormone (Saizen)
|4.||GTP-Binding Proteins (G-Protein)
|5.||Growth Hormone (Somatotropin)
|9.||Adenosine Diphosphate (ADP)
|10.||Cyclic AMP (AMP, Cyclic)