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Pycnodysostosis
Known as:
PKND
, PYCD
, MAROTEAUX-LAMY SYNDROME 2
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Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and…
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National Institutes of Health
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Related topics
Related topics
20 relations
Autosomal recessive inheritance
Brachydactyly
CTSK gene
Congenital hypoplasia of clavicle
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2011
Highly Cited
2011
An atypical subtrochanteric femoral fracture from pycnodysostosis: A lesson from nature
C. Yates
,
M. Bartlett
,
P. Ebeling
Journal of Bone and Mineral Research
2011
Corpus ID: 26375734
This case describes a man with an unusual cause of an atypical subtrochanteric fracture, pycnodysostosis. This condition results…
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Review
2010
Review
2010
Craniosynostosis in pycnodysostosis: Broadening the spectrum of the cranial flat bone abnormalities
D. Bertola
,
C. Amaral
,
C. Kim
,
L. Albano
,
Meire Aguena
,
M. Passos-Bueno
American Journal of Medical Genetics. Part A
2010
Corpus ID: 19086584
Pycnodysostosis is a rare autosomal recessive skeletal dysplasia caused by the absence of active cathepsin K, which is a…
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2004
2004
Dense bone-too much bone: Radiological considerations and differential diagnosis
H. Jacobson
Skeletal Radiology
2004
Corpus ID: 10268494
SummaryIn conclusion, the attempt has been made to demonstrate that three major forms of new bone formation exist: reactive…
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1998
1998
The dental, craniofacial, and biochemical features of pyknodysostosis: a report of three new cases.
Nigel P. Hunt
,
Susan J. Cunningham
,
Nora Adnan
,
Malcolm Harris
Journal of oral and maxillofacial surgery
1998
Corpus ID: 26946986
1994
1994
Genetics in art.
A. Emery
,
M. Emery
Journal of Medical Genetics
1994
Corpus ID: 35903784
The relationship between art and medicine can be considered from essentially two points of view: diseases in artists which have…
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1990
1990
Pyknodysostosis: case report with surgical correction of the facial deformity.
V. Ilankovan
,
K. Moos
British Journal of Oral and Maxillofacial Surgery
1990
Corpus ID: 43494963
1986
1986
Pycnodysostosis with Visceral Manifestation and Rickets
B. R. Santhanakrishnan
,
S. Panneerselvam
,
S. Ramesh
,
M. Panchatcharam
La Clinica pediatrica
1986
Corpus ID: 22063260
Pycnodysostosis is a rare bone disease. Visceral manifestations associated with anemia and/or rickets have been reported in…
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1976
1976
Pycnodysostosis presenting with bilateral subtrachanteric fractures: case report.
Roth Vg
1976
Corpus ID: 203721182
A 50-year-old woman had bilateral subtrochanteric fractures over a period of 9 months; both fractures were found to be in…
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Review
1974
Review
1974
A comparative study of pycnodysostosis, cleidocranial dysostosis, osteopetrosis and acro-osteolysis.
A. Wolpowitz
,
A. Matisonn
South African medical journal = Suid-Afrikaanse…
1974
Corpus ID: 9999534
A radiological study of cases of pycnodysostosis, osteopetrosis, cleidocranial dysostosis and acro-osteolysis revealed an…
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Review
1970
Review
1970
Frontodigital syndrome: a dominantly inherited disorder with normal intelligence.
R. Marshall
,
David W. Smith
Jornal de Pediatria
1970
Corpus ID: 43464182
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