Osteopetrosis

Thomas, Anish; Francis, Lisa; James, B R

doi:10.1136/pgmj.2008.075853

Cited by 1 publication

(2 citation statements)

References 5 publications

(5 reference statements)

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“…The clinical presentation can be highly variable due to reduced penetrance of the AD phenotype (6 ). Their bone marrow function is usually not compromised.…”

Section: Osteopetrosismentioning

confidence: 99%

“…Their bone marrow function is usually not compromised. They can present with radiological findings such as "bone within bone" appearance and focal sclerosis of the skull base, pelvis, and vertebral end plates-"sandwich" vertebrae and "Ruggerjersey" spine (2,4,6,7 ). Two distinct types of AD osteopetrosis have been described, type I and type II, on the basis of clinical, biochemical, and radiological features (4 ).…”

Section: Osteopetrosismentioning

confidence: 99%

See 1 more Smart Citation

A Girl with Bone Sclerosis and Fracture

Wijeratne¹,

Choy²,

Lu³

et al. 2016

Clinical Chemistry

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A previously fit and well 5-year-old girl presented to the emergency department with right hip pain and limp following a minor fall from play equipment. X-ray imaging confirmed the presence of a femoral fracture as well as diffuse sclerosis in the sacrum, pelvis, and bilateral proximal femurs (Fig. 1). MRI scan revealed mild stenosis of auditory canals, optic canals, and foramen magnum with no neural compression. DEXA (dual energy X-ray absorptiometry) scan showed markedly increased bone density, with a total body age-matched z score of ϩ14. Bone marrow aspirate was normal. The patient had no other significant medical history and she was not on any regular medications. There was no family history of note but her mother also has increased bone mineral density.Results for serum electrolytes, urea, creatinine, total calcium, phosphate, parathyroid hormone, vitamin D, alkaline phosphatase, and alanine aminotransferase were all within reference intervals. However, other biochemistry investigations revealed aspartate aminotransferase (AST) 7

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“…The clinical presentation can be highly variable due to reduced penetrance of the AD phenotype (6 ). Their bone marrow function is usually not compromised.…”

Section: Osteopetrosismentioning

confidence: 99%