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Pycnodysostosis

Known as: PKND, PYCD, MAROTEAUX-LAMY SYNDROME 2 
Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and… 
National Institutes of Health

Related topics

Related topics

20 relations
Autosomal recessive inheritanceBrachydactylyCTSK geneCongenital hypoplasia of clavicle

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
A novel mutation (R122Q) in the cathepsin K gene in a Chinese child with Pyknodysostosis.
Review
2010
Review
2010
Craniosynostosis in pycnodysostosis: Broadening the spectrum of the cranial flat bone abnormalities
Pycnodysostosis is a rare autosomal recessive skeletal dysplasia caused by the absence of active cathepsin K, which is a… 
2004
2004
Dense bone-too much bone: Radiological considerations and differential diagnosis
SummaryIn conclusion, the attempt has been made to demonstrate that three major forms of new bone formation exist: reactive… 
1998
1998
The dental, craniofacial, and biochemical features of pyknodysostosis: a report of three new cases.
1994
1994
Genetics in art.
The relationship between art and medicine can be considered from essentially two points of view: diseases in artists which have… 
1990
1990
Pyknodysostosis: case report with surgical correction of the facial deformity.
1986
1986
Pycnodysostosis with Visceral Manifestation and Rickets
Pycnodysostosis is a rare bone disease. Visceral manifestations associated with anemia and/or rickets have been reported in… 
1976
1976
Pycnodysostosis presenting with bilateral subtrachanteric fractures: case report.
A 50-year-old woman had bilateral subtrochanteric fractures over a period of 9 months; both fractures were found to be in… 
Review
1974
Review
1974
A comparative study of pycnodysostosis, cleidocranial dysostosis, osteopetrosis and acro-osteolysis.
A radiological study of cases of pycnodysostosis, osteopetrosis, cleidocranial dysostosis and acro-osteolysis revealed an… 
Review
1970
Review
1970
Frontodigital syndrome: a dominantly inherited disorder with normal intelligence.
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