Diagnosis and management of osteopetrosis: consensus guidelines from the osteopetrosis working group

CC Wu, MJ Econs, LA DiMeglio… - The Journal of …, 2017 - academic.oup.com
Background Osteopetrosis encompasses a group of rare metabolic bone diseases
characterized by impaired osteoclast activity or development, resulting in high bone mineral …

Neurological aspects of osteopetrosis

CG Steward - Neuropathology and applied neurobiology, 2003 - Wiley Online Library
The osteopetroses are caused by reduced activity of osteoclasts which results in defective
remodelling of bone and increased bone density. They range from a devastating …

[BOOK][B] Neuroimaging: clinical and physical principles

RA Zimmerman, WA Gibby, RF Carmody - 2012 - books.google.com
Neuroimaging: Clinical and Physical Principles is destined to be the new benchmark among
text/reference books for neuroradiology. Unique among all similar titles is this book's …

Radiographic manifestations of congenital anomalies of the skull

SB Kaplan, SS Kemp, KS Oh - Radiologic Clinics of North America, 1991 - Elsevier
Congenital anomalies of the pediatric skull are caused by a diverse group of disorders. For
the purposes of this discussion, these entities can be classified according to the …

Osteomyelitis of the mandible in a patient with osteopetrosis. Case report and review of the literature

CM García, MAP García, RG García, FM Gil - Journal of maxillofacial and …, 2013 - Springer
Osteopetrosis is a rare hereditary bone disorder presenting with variable clinical features
and is characterized by an increase in bone density and reduction of marrow spaces that …

Cranial imaging in autosomal recessive osteopetrosis. Part I. Facial bones and calvarium.

AD Elster, EG Theros, LL Key, MY Chen - Radiology, 1992 - pubs.rsna.org
Cranial imaging studies (radiographs, computed tomographic [CT] scans, magnetic
resonance [MR] images, and bone marrow scintigrams) in 13 infants and children with …

Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia

M Srinivasan, M Abinun, AJ Cant, K Tan… - Archives of Disease in …, 2000 - fn.bmj.com
Presentation characteristics were reviewed in 14 children from 12 families with malignant
infantile osteopetrosis seen at two large referral centres for bone marrow transplantation …

When bone becomes marble: head and neck manifestations of osteopetrosis

ALH Hamdan, MM Nabulsi, FT Farhat… - Paediatrics & child …, 2006 - academic.oup.com
Osteopetrosis is a genetically determined bone disease resulting from malfunction of
osteoclastic activity, leading to excessive deposition of immature bone. This may result in …

Cranial imaging in autosomal recessive osteopetrosis. Part II. Skull base and brain.

AD Elster, EG Theros, LL Key, MY Chen - Radiology, 1992 - pubs.rsna.org
The authors reviewed cranial imaging studies (radiographs, computed tomographic scans,
and magnetic resonance [MR] images) in 13 infants and children with the autosomal …

Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective

RS Lachman - American journal of medical genetics, 1997 - Wiley Online Library
The neurologic manifestations of the skeletal dysplasias are reviewed. Three important
major groups are identified: Achondroplasia (cranio‐cervical junction problems in infancy …