Papilledema From Craniosynostosis in Pycnodysostosis

Pycnodysostosis: mutation spectrum in five unrelated Indian children

“…Cranial nerve compressions and foramina obstruction, encountered commonly in disorders with increased bone density, are not reported in pycnodysostosis. However, papilledema and porencephalic cysts have been reported occasionally (Figueiredo et al, 1989;Kumar, 2014;Kyung and Horton, 2015).…”

The role of cathepsin K in oral and maxillofacial disorders

“…The typical features of pycnodysostosis include short stature, an increase in the bone density of long bones, pathological fractures with poor healing, stubby hands and feet with dystrophic nails, and typical craniofacial features (Xue et al, 2011). Here, we summarized the typical craniofacial features of pycnodysostosis in 135 reported cases (Table 1) (Arman et al, 2014;Balaji et al, 2014;Berenguer et al, 2012;Caracas et al, 2012;Cortisse et al, 2012;Della Marca et al, 2012;Farronato et al, 2014;Girbal et al, 2013;Huang et al, 2015;Kamak et al, 2012;Kshirsagar et al, 2012;Kumar, 2014;Kyung and Horton, 2015;Ortegosa et al, 2014;Ozdemir et al, 2013;Pangrazio et al, 2014;Puri et al, 2013;Raposo-Amaral et al, 2013;Rohit et al, 2015;Singh et al, 2015;Singh and Sambandam, 2014;Tinsa et al, 2014;Utokpat et al, 2013;Xue et al, 2015;Ainola et al, 2008;Alibhai et al, 1999;Alves Pereira et al, 2008;Bathi and Masur, 2000;Bertola et al, 2010;Chavassieux et al, 2008;Chen et al, 2007;Dimitrakopoulos et al, 2007;Fonteles et al, 2007;Fratzl-Zelman et al, 2004;Frota et al, 2010;…”

“…The typical features of pycnodysostosis include short stature, an increase in the bone density of long bones, pathological fractures with poor healing, stubby hands and feet with dystrophic nails, and typical craniofacial features (Xue et al , ). Here, we summarized the typical craniofacial features of pycnodysostosis in 135 reported cases (Table ) (Arman et al , ; Balaji et al , ; Berenguer et al , ; Caracas et al , ; Cortisse et al , ; Della Marca et al , ; Farronato et al , ; Girbal et al , ; Huang et al , ; Kamak et al , ; Kshirsagar et al , ; Kumar, ; Kyung and Horton, ; Ortegosa et al , ; Ozdemir et al , ; Pangrazio et al , ; Puri et al , ; Raposo‐Amaral et al , ; Rohit et al , ; Singh et al , ; Singh and Sambandam, ; Tinsa et al , ; Utokpat et al , ; Xue et al , ; Ainola et al , ; Alibhai et al , ; Alves Pereira et al , ; Bathi and Masur, ; Bertola et al , ; Chavassieux et al , ; Chen et al , ; Dimitrakopoulos et al , ; Fonteles et al , ; Fratzl‐Zelman et al , ; Frota et al , ; Fujita et al , ; Gelb et al , ; Hernandez‐Alfaro et al , ; Ho et al , ; Hunt et al , ; Karakurt et al , ; Kato et al , ; Khan et al , ; Kirita et al , ; Kundu et al , ; Laffranchi et al , ; Landa et al , ; Li et al , ; Moniz et al , ; Muto et al , ; Nagura et al , ; Nakase et al , ; Norholt et al , ; Olubaniyi et al , ; Ornetti et al , ; Ram et al , ; Senel et al , ; Singh et...…”

Cathepsin K osteoporosis trials, pycnodysostosis and mouse deficiency models: Commonalities and differences

“…In general, it is difficult to describe genotype-phenotype correlations regarding disease severity with respect to height, fracture frequency, or additional anomalies such as craniosynostosis and Arnold-Chiari malformation. [120,[123][124][125][126][127] However, there is evidence that the more severe the genotype is, the earlier in age bone fractures occur. [22,123,126] Patients are usually presented in their childhood to the clinics with short stature and atypical fractures.…”