Osteopetrosis

Nussey, A. M.

doi:10.1136/adc.13.74.161

Cited by 35 publications

(9 citation statements)

References 10 publications

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“…As published cases of the disease accumulated, two types came to be distinguished (McCune and Bradley, 1934;Harnapp, 1937;Nussey, 1938;Zetterstrom, 1958). The first, or clinically 'malignant' type may be characterized by a refractory and often leucoerythroblastic anaemia, enlargement of liver, spleen and lymph nodes, a liability to multiple fractures, and death in infancy or early childhood.…”

mentioning

confidence: 99%

A Case of Osteopetrosis (Albers-Schonberg) with Intercurrent Pneumocystis Pneumonitis

Aherne¹

1960

Archives of Disease in Childhood

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mentioning

confidence: 99%

A Case of Osteopetrosis (Albers-Schonberg) with Intercurrent Pneumocystis Pneumonitis

Aherne¹

1960

Archives of Disease in Childhood

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“…The term osteopetrosis (OP), which is also known as ‘marble bone disease’ and ‘Albers‐Schonberg disease’, was first described in 1904 and refers to a heterogeneous group of rare congenital disorders characterised by the imbalance between osteoclastic resorption and osteoblastic formation of bone resulting in abnormally high bone density and volume 1. OP has been reported in humans,1 2 birds,3–5 dogs,6 mice,7 sheep,8 cattle,9–15 manatee,16 horses,17 donkeys18 and cats 19–22. The clinical features of OP depend on the mode of inheritance of this condition 2.…”

Section: Introductionmentioning

confidence: 99%

Magnetic resonance findings in a Cavalier King Charles spaniel with osteopetrosis, Chiari‐like malformation and syringomyelia

Fernandes¹,

Jordan²,

Driver³

2019

Vet Record Case Reports

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Osteopetrosis (OP) is a rare genetic condition characterised by osteoclast impairment, deficient bone remodelling and increased bone density. Human patients with OP often present with fractures, osteomyelitis, anaemia, abnormal skeletal development, cranial nerve compression and rarely increased intracranial pressure secondary to craniosynostosis and/or calvarial thickening. A 17-month-old male neutered Cavalier King Charles spaniel was presented for evaluation of occasional painful vocalisation. MR of the brain and the vertebral column revealed a rare association of Chiari-like malformation (CLM) and calvarial thickening due to diffuse OP resulting in severe cerebellar compression and herniation into the foramen magnum. To the authors’ knowledge, this report represents the first described case of calvarial thickening caused by OP in association with CLM and syringomyelia in veterinary medicine.

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“…The latter feature leads to anemia and thrombocytopenia, and these abnormalities in conjunction with increased hemolysis from hypersplenism [46, 681 usually cause death. It is generally agreed that MRO arises from a rare recessive gene [53].…”

Section: Malignant Recessive Osteopetrosismentioning

confidence: 99%