Osteogenesis imperfecta history and symptoms

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

## Overview[edit | edit source]

## History and Symptoms[edit | edit source]

## 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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