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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v t e 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)