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Page 1
Near normalization of adult height and body proportions by growth hormone in pycnodysostosis.
Rothenbühler A, Piquard C, Gueorguieva I, Lahlou N, Linglart A, Bougnères P. Rothenbühler A, et al. J Clin Endocrinol Metab. 2010 Jun;95(6):2827-31. doi: 10.1210/jc.2009-2531. Epub 2010 Mar 31. J Clin Endocrinol Metab. 2010. PMID: 20357177
CONTEXT: Mutations in the cathepsin K gene (CTSK) cause a very rare form of short-limb dwarfism called pyknodysostosis (online inheritance in man 265800) that reduces adult height to 130-150 cm. OBJECTIVE: To study the effects of GH in children with pyknodysostosis. …
CONTEXT: Mutations in the cathepsin K gene (CTSK) cause a very rare form of short-limb dwarfism called pyknodysostosis (online inheri …
Rigid external maxillary distraction and rhinoplasty for pyknodysostosis.
Varol A, Sabuncuoglu FA, Sencimen M, Akcam T, Olmez H, Basa S. Varol A, et al. J Craniofac Surg. 2011 May;22(3):901-4. doi: 10.1097/SCS.0b013e31820f7f3c. J Craniofac Surg. 2011. PMID: 21558928
AIM: This article reports the treatment of an 33-year-old female patient with pyknodysostosis by rigid external distraction II midface distraction system. STUDY DESIGN: The patient with pyknodysostosis described in this report had severe midfacial hypoplasia. ...
AIM: This article reports the treatment of an 33-year-old female patient with pyknodysostosis by rigid external distraction II midfac …
A review of the Liverpool elbow prosthesis from 1974 to 1982.
Soni RK, Cavendish ME. Soni RK, et al. J Bone Joint Surg Br. 1984 Mar;66(2):248-53. doi: 10.1302/0301-620X.66B2.6707062. J Bone Joint Surg Br. 1984. PMID: 6707062
Fifty-five had rheumatoid arthritis, eight osteoarthritis or ankylosis secondary to injury, one osteochondritis dissecans and one pyknodysostosis. The average preoperative range of movement was 42 degrees to 112 degrees with 47 degrees of pronation and 42 degrees of supina …
Fifty-five had rheumatoid arthritis, eight osteoarthritis or ankylosis secondary to injury, one osteochondritis dissecans and one pyknody …
Mandibular osteomyelitis and fracture in a patient with pyknodysostosis.
Frota R, Linard RA, de Oliveira e Silva ED, Antunes AA, Carvalho RW, Santos Tde S. Frota R, et al. J Craniofac Surg. 2010 May;21(3):787-9. doi: 10.1097/SCS.0b013e3181d7f2b0. J Craniofac Surg. 2010. PMID: 20485049
Pyknodysostosis is a rare, recessive, hereditary, autosomal disease belonging to the group of bone dysplasias. ...
Pyknodysostosis is a rare, recessive, hereditary, autosomal disease belonging to the group of bone dysplasias. ...
Extradural haematoma: a rare, but fatal complication of pyknodysostosis.
Olubaniyi BO, Sinha AK, Bako K, May PL. Olubaniyi BO, et al. Br J Neurosurg. 2008 Aug;22(4):594-5. doi: 10.1080/02688690801905582. Br J Neurosurg. 2008. PMID: 18661321
We report a 4-year-old girl with pyknodysostosis who suffered a skull fracture and epidural haematoma following a minor fall. ...
We report a 4-year-old girl with pyknodysostosis who suffered a skull fracture and epidural haematoma following a minor fall. ...
Dense bone--too much bone: radiological considerations and differential diagnosis. Part II.
Jacobson HG. Jacobson HG. Skeletal Radiol. 1985;13(2):97-113. doi: 10.1007/BF00352080. Skeletal Radiol. 1985. PMID: 3883506
In such entities as osteopetrosis, the overproduction of cartilage cords and subsequent excessive mineralization is known to be responsible for the dense bone. However, in various skeletal dysplasias (e.g., pyknodysostosis, van Buchem disease), the exact mechanism for the …
In such entities as osteopetrosis, the overproduction of cartilage cords and subsequent excessive mineralization is known to be responsible …
"Osteopetrosis" in the Fairbank Collection.
Horan FT, Beighton PH. Horan FT, et al. J Bone Joint Surg Br. 1978 Feb;60(1):53-5. doi: 10.1302/0301-620X.60B1.342533. J Bone Joint Surg Br. 1978. PMID: 342533
Nine patients proved to have the classical autosomal dominant form of osteopetrosis, four had the malignant autosomal recessive type, craniometaphyseal dysplasia was present in two kindreds and isolated individuals had pyknodysostosis, atypical craniodiaphyseal dysplasia a …
Nine patients proved to have the classical autosomal dominant form of osteopetrosis, four had the malignant autosomal recessive type, cranio …
Genetic skeletal dysplasia in Thailand: the Siriraj experience.
Wasant P, Waeteekul S, Rimoin DL, Lachman RS. Wasant P, et al. Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:59-67. Southeast Asian J Trop Med Public Health. 1995. PMID: 8629144
We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleid …
We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dyspl …
Pyknodysostosis: visceral manifestations and simian crease.
Singh AR, Kaur A, Anand NK, Singh JR. Singh AR, et al. Indian J Pediatr. 2004 May;71(5):453-5. doi: 10.1007/BF02725641. Indian J Pediatr. 2004. PMID: 15163881
Pyknodysostosis is a rare autosomal recessive osteosclerosing skeletal disorder caused by mutations in the CTSK gene situated at 1q21 that codes for cathepsin K - a lysosomal cysteine protease. ...In this article we report a case of 12 year old female from Punjab with p …
Pyknodysostosis is a rare autosomal recessive osteosclerosing skeletal disorder caused by mutations in the CTSK gene situated at 1q21 …