pyknodysostosis

pyknodysostosis
A condition characterized by short stature, delayed closure of the fontanels, and hypoplasia of the terminal phalanges. Autosomal recessive inheritance. SYN: osteopetrosis acro- osteolytica. [pykno- + G. dys-, difficult, + osteon, bone, + -osis, condition]

* * *

pyk·no·dys·os·to·sis or pyc·no·dys·os·to·sis .pik-nō-.dis-äs-'tō-səs n, pl -to·ses -.sēz a rare condition inherited as an autosomal recessive trait and characterized esp. by short stature, fragile bones, shortness of the fingers and toes, failure of the anterior fontanel to close properly, and a receding chin

* * *

pyk·no·dys·os·to·sis (pik″no-dis″os-toґsis) an autosomal recessive disorder caused by mutation in the CTSK gene (locus: 1q21), which encodes cathepsin K, resulting in osteoclast dysfunction. It is characterized by short stature, osteosclerosis, fragility of bone, partial agenesis of terminal digits of hands and feet, cranial anomalies, frontal and occipital bossing, and hypoplasia of the angle of the mandible.

Medical dictionary. 2011.

Игры ⚽ Поможем написать курсовую

Look at other dictionaries:

  • pyknodysostosis — pycnodysostosis or pyknodysostosis / dis os tōˈsis/ noun (Gr dys abnormal, osteon bone, and osis diseased state; medicine) A rare inherited bone disease characterized by short stature and fragility and thickening of the bones • • • Main Entry:… …   Useful english dictionary

  • Osteogenesis imperfecta — Classification and external resources The classic blue sclerae of a person with osteogenesis imperfecta ICD 10 Q …   Wikipedia

  • Wormian bones — compared to a normal skull Wormian bones, also known as extra sutural bones[1] are extra bone pieces that occur within a suture in the cranium. These are irregular isolated bones which appear in addition to the usual centers of ossification of… …   Wikipedia

  • Pyknodysostose — Klassifikation nach ICD 10 Q78.2 Marmorknochenkrankheit …   Deutsch Wikipedia

  • Osteopetrosis — Thickening of the bones which become abnormally dense due an inherited defect in bone resorption the process in which old bone is broken down and removed so that new bone can be added to the skeleton. Osteoclasts are the cells responsible for… …   Medical dictionary

  • pycnic — pycnic, pycnodysostosis, pycnosis, pycnotic var of PYKNIC, PYKNODYSOSTOSIS, PYKNOSIS, PYKNOTIC …   Medical dictionary

  • pycnodysostosis — noun a form of dwarfism accompanied by fragile bones and bad teeth • Hypernyms: ↑dwarfism, ↑nanism * * * pycnodysostosis or pyknodysostosis / dis os tōˈsis/ noun (Gr dys abnormal, osteon bone, and osis diseased state; medicine) A rare inherited… …   Useful english dictionary

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”