An Extremely Rare, Atypical and Genetically-Undetermined Form of Osteopetrosis

Cecilia Tetta; Marco Focaccia; Lea Bono; Eugenio Rimondi; Paolo Spinnato

doi:10.2174/1573405617666210129111339

An Extremely Rare, Atypical and Genetically-Undetermined Form of Osteopetrosis

Cecilia Tetta, Marco Focaccia, Lea Bono, Eugenio Rimondi, Paolo Spinnato

Istituti Ortopedici Rizzoli

Research output: Contribution to journal › Article › peer-review

Abstract

Osteopetrosis is an uncommon skeletal disorder characterized by generalized sclerosis of bones due to defective osteoclast function. A wide variation in clinical severity of the disease has been observed. Radiographic features and genetic testing are usually used to diagnose the condition. In the present study, we present a case of an extremely rare, atypical and genetically-undetermined form of Osteopetrosis. This patient had some clinical and radiological features of craniometaphyseal dysplasia along with atypical radiological signs of osteopetrosis.

Original language	English
Pages (from-to)	1036-1039
Number of pages	4
Journal	Current Hypertension Reviews
Volume	17
Issue number	8
Early online date	Jan 28 2021
DOIs	https://doi.org/10.2174/1573405617666210129111339
Publication status	Published - 2021

Keywords

Craniometaphyseal dysplasia
Diagnostic imaging
Metabolic bone disease
Osteopetrosis
Sclerosis; X-rays

Access to Document

10.2174/1573405617666210129111339

Cite this

@article{b0f6148f72f5462f93cd24dd2c1b2c57,

title = "An Extremely Rare, Atypical and Genetically-Undetermined Form of Osteopetrosis",

abstract = "Osteopetrosis is an uncommon skeletal disorder characterized by generalized sclerosis of bones due to defective osteoclast function. A wide variation in clinical severity of the disease has been observed. Radiographic features and genetic testing are usually used to diagnose the condition. In the present study, we present a case of an extremely rare, atypical and genetically-undetermined form of Osteopetrosis. This patient had some clinical and radiological features of craniometaphyseal dysplasia along with atypical radiological signs of osteopetrosis.",

keywords = "Craniometaphyseal dysplasia, Diagnostic imaging, Metabolic bone disease, Osteopetrosis, Sclerosis; X-rays",

author = "Cecilia Tetta and Marco Focaccia and Lea Bono and Eugenio Rimondi and Paolo Spinnato",

note = "Copyright{\textcopyright} Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.",

year = "2021",

doi = "10.2174/1573405617666210129111339",

language = "English",

volume = "17",

pages = "1036--1039",

journal = "Current Medical Imaging",

issn = "1573-4021",

publisher = "Bentham Science Publishers B.V.",

number = "8",

}

TY - JOUR

T1 - An Extremely Rare, Atypical and Genetically-Undetermined Form of Osteopetrosis

AU - Tetta, Cecilia

AU - Focaccia, Marco

AU - Bono, Lea

AU - Rimondi, Eugenio

AU - Spinnato, Paolo

PY - 2021

Y1 - 2021

N2 - Osteopetrosis is an uncommon skeletal disorder characterized by generalized sclerosis of bones due to defective osteoclast function. A wide variation in clinical severity of the disease has been observed. Radiographic features and genetic testing are usually used to diagnose the condition. In the present study, we present a case of an extremely rare, atypical and genetically-undetermined form of Osteopetrosis. This patient had some clinical and radiological features of craniometaphyseal dysplasia along with atypical radiological signs of osteopetrosis.

AB - Osteopetrosis is an uncommon skeletal disorder characterized by generalized sclerosis of bones due to defective osteoclast function. A wide variation in clinical severity of the disease has been observed. Radiographic features and genetic testing are usually used to diagnose the condition. In the present study, we present a case of an extremely rare, atypical and genetically-undetermined form of Osteopetrosis. This patient had some clinical and radiological features of craniometaphyseal dysplasia along with atypical radiological signs of osteopetrosis.

KW - Craniometaphyseal dysplasia

KW - Diagnostic imaging

KW - Metabolic bone disease

KW - Osteopetrosis

KW - Sclerosis; X-rays

U2 - 10.2174/1573405617666210129111339

DO - 10.2174/1573405617666210129111339

M3 - Article

C2 - 33511927

VL - 17

SP - 1036

EP - 1039

JO - Current Medical Imaging

JF - Current Medical Imaging

SN - 1573-4021

IS - 8

ER -

An Extremely Rare, Atypical and Genetically-Undetermined Form of Osteopetrosis

Abstract

Keywords

Access to Document

Fingerprint

Cite this