pyknodysostosis

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pyknodysostosis

 [pik″no-dis″os-to´sis]
a hereditary syndrome of dwarfism, osteopetrosis, and skeletal anomalies of the cranium, digits, and mandible.

pyk·no·dys·os·to·sis

(pik'nō-dis'os-tō'sis),
[TA] A condition characterized by short stature, delayed closure of the fontanelles, and hypoplasia of the terminal phalanges. Autosomal recessive inheritance.
[pykno- + G. dys-, difficult, + osteon, bone, + -osis, condition]

pyk·no·dys·os·to·sis

(pik'nō-dis'os-tō'sis) [TA]
A familial dysmorphism characterized by short stature, delayed closure of the fontanelles, and hypoplasia of the terminal phalanges; autosomal recessive inheritance.
Synonym(s): pycnodysostosis.
[pykno- + dys- + G. osteon,bone, + -osis, condition]
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References in periodicals archive ?
Leyes, "Lumbar spine anomalies in a pycnodysostosis case," European Spine Journal, vol.
Cephalometric characteristics and dento-facial abnormalities of pycnodysostosis: report of four cases from Brazil.
Pycnodysostosis associated with bilateral congenital pseudarthrosis of the clavicle.
Molecular analysis of a novel cathepsin K gene mutation in a Chinese child with pycnodysostosis. J.
Pycnodysostosis with unusual findings: a case report.
A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.
Bennaceur, "Severe snoring in a child with pycnodysostosis treated with a bilateral rib graft," Cleft Palate-Craniofacial Journal, vol.
de Azevedo Mde, "Cephalometric characteristics and dentofacial abnormalities of pycnodysostosis: report of four cases from Brazil," Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics, vol.
Moshy, "Presentation and management of chronic osteomyelitis in an African patient with pycnodysostosis," Oral Diseases, vol.
Mareque Bueno, "Orthognathic surgery in pycnodysostosis: a case report," International Journal of Oral and Maxillofacial Surgery, vol.
Mosekilde, "Maxillary distraction osteogenesis in a patient with pycnodysostosis: a case report," Journal of Oral and Maxillofacial Surgery, vol.
Pycnodysostosis: An early case report with emphasis on the radiographic findings.