Osteogenesis imperfecta differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

## Overview[edit | edit source]

Osteogenesis imperfecta must be differentiated from other diseases that cause lowering bone mineral density (BMD), such as osteoporosis, scurvy, osteomalacia, multiple myeloma, and homocysteinuria.

## Differentiating Osteogenesis Imperfecta from other Diseases[edit | edit source]

* Osteogenesis imperfecta must be differentiated from other diseases that cause lowering bone mineral density (BMD), such as osteoporosis, scurvy, osteomalacia, multiple myeloma, and homocysteinuria.

Differential Diagnosis | Similar Features | Differentiating Features
Osteogenesis imperfecta |

* On physical examination, demonstrates Short stature, scoliosis, and propensity for fractures

| \-
Osteoporosis |

* On physical examination, demonstrates acute musculoskletal pain, if fracture happened
* On imaging studies, demonstrates severe decrease in BMD

* On physical examination, not demonstrates tooth defects, hearing defects, and blue sclera
* On laboratory studies, demonstrates very low bone mineral density (BMD)

Idiopathic transient osteoporosis of hip |

* On physical examination, demonstrates acute hip pain
* On imaging studies, demonstrates sub-chondoral cortical loss and diffuse osteopenia of the femoral neck

* On history, demonstrates mostly involvement of pregnant women and young men
* On history, demonstrates to be self-limiting in 6-8 months

Osteomalacia |

* On physical examination, demonstrates diffuse bone pain, fatigue, and fractures are the common symptoms
* On imaging studies, demonstrates low bone mineral density (BMD)

* On imaging studies, demonstrate the brief bone mass loss in bones

Scurvy |

* On physical examination, demonstrates bone pain and frequent fractures due to brittle bone
* On imaging studies, demonstrates low bone mineral density (BMD)

* On physical examination, demonstrates other mucosal disruption symptoms, such as bleeding gums
* On imaging studies, demonstrates normal bone mineral density (BMD)

Multiple myeloma |

* On physical examination, demonstrates diffuse bone pain and tenderness
* On imaging studies, demonstrates osteolytic lesions in the bones

* On laboratory studies, demonstrates monoclonal IgM overload in electrophoresis, and also Bence-Jones protein in urine

Homocystinuria |

* On physical examination, demonstrates diffuse bone pain and musculoskeletal symptoms

* On physical examination, demonstrates visual impairment
* On laboratory studies, demonstrates high amounts of homocysteine in urine

## References[edit | edit source]

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Congenital malformations and deformations of musculoskeletal system (Q65-Q79, 754-756)

Limbs|

hip: Dislocation of hip/Hip dysplasia \- Upington disease

feet (Club foot, Flat feet, Pes cavus)

systemic dislocations Larsen syndrome

head, face, spine and chest: skull, face and jaw (Dolichocephaly, Greig cephalopolysyndactyly syndrome, Plagiocephaly) - spine Scoliosis \- chest (Pectus excavatum, Pectus carinatum)

any combination head, face, jaw, upper limb, lower limb, pelvis, dactyly Antley-Bixler syndrome \- Schmitt Gillenwater Kelly syndrome

dactyly Polydactyly/Syndactyly (Webbed toes) - Cenani Lenz syndactylism

reduction deficits (Acheiropodia, Amelia, Ectrodactyly, Phocomelia)

upper limb (Cleidocranial dysostosis, Madelung's deformity, Sprengel's deformity, Wallis Zieff Goldblatt syndrome)

knee (Genu valgum, Genu varum)

other Arthrogryposis

Skull and facial bones|

Carpenter syndrome \- Craniodiaphyseal dysplasia \- Craniosynostosis (Scaphocephaly) - Crouzon syndrome \- Hypertelorism \- Macrocephaly \- Oxycephaly \- Platybasia \- Saethre-Chotzen syndrome \- Treacher Collins syndrome \- Trigonocephaly

Spine and bony thorax|

Klippel-Feil syndrome \- Spondylolisthesis \- Cervical rib \- Bifid rib

Osteochondrodysplasia|

developement of cartilage, tubular bones and spine: Achondrogenesis/Hypochondrogenesis \- Boomerang dysplasia \- Thanatophoric dysplasia \- Short rib-polydactyly syndrome \- Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome), Achondroplasia (Hypochondroplasia, Osteosclerosis congenita) - Ellis-van Creveld syndrome \- Otospondylomegaepiphyseal dysplasia \- Spondyloepiphyseal dysplasia congenita
\- Osteogenesis imperfecta \- McCune-Albright syndrome \- Osteopetrosis \- Metaphyseal dysplasia \- Recessive multiple epiphyseal dysplasia \- Hereditary multiple exostoses \- Osteopoikilosis \- Chondrodystrophy \- Osteodystrophy \- Atelosteogenesis, type II \- Diastrophic dysplasia

Other|

abdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) - Ehlers-Danlos syndrome

See also non-congenital conditions (M, 710-739)

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