dysostosis


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

dysostosis

[¦dis·ä′stō·səs]
(medicine)
Defective formation of bone.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
The involvement of the musculoskeletal system or "dysostosis multiplex" is a common point in all cases of MPS.
(4-6) The typical clinical symptoms include short stature, cardiac valve involvement, normal intelligence or mild mental retardation, normal corneal appearance or steaminess of the cornea, and scoliosis and skeletal and orthopedic complications including hand and shoulder stiffness, claw-hand deformities, short iliac wings, erosion of the femoral heads, dysostosis multiplex of the vertebral bodies, long bones, skull, phalanges and clavicles with no to mild organomegaly.
Spondylocostal dysostosis has been associated with significant infant mortality and poor outcomes resulting from thoracic insufficiency and subsequent respiratory complications [5].
Cleidocranial dysostosis. BMJ Case Rep 2015 26; 2015:0-0.
It usually inherited in autosomal dominant manner and caused by mutation in human osteoblast − specific, runt-related transcription factor 2 (RUNX2) gene which is located on chromosome 6p21.[sup][1] CCD is also known as Marie–Sainton disease, mutational dysostosis, and cleidocranial dysostosis.[sup][2]
Differential diagnosis includes velocardiofacial syndrome (Shprintzen-Goldberg syndrome), Stickler syndrome, and Treacher-Collins syndrome (mandibulofacial dysostosis).
Goldenhar, "Associated malformations of eye and ear, particularly dermoid syndrome epibulbar-appendices, congenital auricular fistulas and its relations with Manibulofacial Dysostosis," Journal de Genetique Humaine, vol.
Bruce, "Spondylocostal dysostosis with perinatal death and meningomyelocele," Pediatric Pathology, vol.
Spondylocostal dysostosis is also more prevalent on the island than anywhere else, comprising 49% of described cases (5).