pycnodysostosis


Also found in: Thesaurus, Medical, Acronyms, Wikipedia.

pycnodysostosis

(ˌpɪknəʊˌdɪsɒsˈtəʊsɪs)
n
(Medicine) pathol a disorder characterized by fragile bones
Also: pyknodysostosis
Collins English Dictionary – Complete and Unabridged, 12th Edition 2014 © HarperCollins Publishers 1991, 1994, 1998, 2000, 2003, 2006, 2007, 2009, 2011, 2014
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.pycnodysostosis - a form of dwarfism accompanied by fragile bones and bad teeth
dwarfism, nanism - a genetic abnormality resulting in short stature
Based on WordNet 3.0, Farlex clipart collection. © 2003-2012 Princeton University, Farlex Inc.
References in periodicals archive ?
A 34-year-old primipara with pycnodysostosis was scheduled for an elective caesarean delivery in week 37 + 4 of pregnancy.
Pycnodysostosis also called Toulouse-Lautrec syndrome was first described in 1923 and defined by Mareteux and Lamy in 1962 [5].
Mutations in CTSKlead to a rare genetic bone disorder "pycnodysostosis" (OMIM 265800) that follows an autosomal recessive mode of inheritance, resulting in osteoclast dysfunction (Soliman et al., 2001; Schilling et al., 2007; Fleming et al., 2007; Naeem et al., 2009).
Features typical to pycnodysostosis are short stature, increased bone density of long bones, pathological recurrent fractures with poor healing, stubby hands and feet with dystrophic nails, unossified fontanels, and an obtuse mandibular angle (Mujawar et al., 2009; Li et al., 2009; Teissier et al., 2009; Osimani et al., 2010).
The objective of this paper is to report on a case of pycnodysostosis with severe snoring and to discuss etiology and management issues of respiratory insufficiency in these patients.
Wendling, "Pedicle stress fracture: an unusual complication of pycnodysostosis," Clinical Rheumatology, vol.
Beertsen, "Phagocytosis of bone collagen by osteoclasts in two cases of pycnodysostosis," Calcified Tissue International, vol.
Konttinen, "Erosive arthritis in a patient with pycnodysostosis: an experiment of nature," Arthritis and Rheumatism, vol.
The characteristic clinical and radiological features exhibited by the patient led to a diagnosis of pycnodysostosis.
Increased bone density without modifcation of bone shape Osteopetrosis precocious type Generalised AR delayed type Type 1 uniform AD intermediate type Type 2 endobones with renal tubular Generalised AR AR acidosis Similar other types Axial osteosclerosis osteomesopyknosis Focal sclerosis AD AR with bamboo hair in vertebrae/pelvis Pycnodysostosis Generalised AR Osteosclerosis Cortical AD Stanesu type thickening of long bones, defcient facial sinus development Osteopathia striata Radiodense SP XLD isolated with striations on all cranial sclerosis bones with cranial sclerosis Sponastrime Striated AR dysplasia metaphysis Melorheostosis Flowing SP hyperostosis Osteopoikilosis Radiodense spots AD Mixed sclerosing Combined pattern SP bone dysplasia 2.
Previous research has shown that osteopetrosis and pycnodysostosis, which are characterized by impaired osteoclast bone-resorption are induced in CtsK-deficient mice.