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Bowing of limbs due to multiple fractures

MedGen UID:
376722
Concept ID:
C1850178
Finding
Synonym: Bowed limbs due to multiple fractures
 
HPO: HP:0003023

Definition

Curvature of the shafts of the long bones due to multiple fractures. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Bowing of limbs due to multiple fractures

Conditions with this feature

Osteogenesis imperfecta type III
MedGen UID:
78664
Concept ID:
C0268362
Disease or Syndrome
COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).
Osteogenesis imperfecta with normal sclerae, dominant form
MedGen UID:
78665
Concept ID:
C0268363
Congenital Abnormality
COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).
Osteogenesis imperfecta type 9
MedGen UID:
376720
Concept ID:
C1850169
Disease or Syndrome
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX (OI9) is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
MedGen UID:
337988
Concept ID:
C1850184
Disease or Syndrome
A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal <i>in utero</i> or shortly after birth. There have been no further descriptions in the literature since 1978.
Osteogenesis imperfecta type 15
MedGen UID:
815174
Concept ID:
C3808844
Disease or Syndrome
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.

Recent clinical studies

Etiology

Senturk L, Gulec C, Sarac Sivrikoz T, Kayserili H, Kalelioglu IH, Avci S, Has R, Coucke P, Kalayci T, Wollnik B, Karaman B, Toksoy G, Symoens S, Yigit G, Yuksel A, Basaran S, Tuysuz B, Altunoglu U, Uyguner ZO
Fetal Diagn Ther 2024;51(3):285-299. Epub 2024 Feb 12 doi: 10.1159/000536324. PMID: 38346409
Scorcelletti M, Kara S, Zange J, Jordan J, Semler O, Schönau E, Rittweger J, Ireland A, Seefried L
Osteoporos Int 2022 Jul;33(7):1601-1611. Epub 2022 Apr 18 doi: 10.1007/s00198-022-06385-z. PMID: 35435480Free PMC Article
Itai T, Wang Z, Nishimura G, Ohashi H, Guo L, Wakano Y, Sugiura T, Hayakawa H, Okada M, Saisu T, Kitta A, Doi H, Kurosawa K, Hotta Y, Hosono K, Sato M, Shimizu K, Takikawa K, Watanabe S, Ikeda N, Suzuki M, Fujita A, Uchiyama Y, Tsuchida N, Miyatake S, Miyake N, Matsumoto N, Ikegawa S
Clin Genet 2022 Jul;102(1):3-11. Epub 2022 Apr 5 doi: 10.1111/cge.14133. PMID: 35342932
Nishimura G, Haga N, Ikeuchi S, Yamaguchi T, Aoki K, Yamato M
Skeletal Radiol 1996 Nov;25(8):717-22. doi: 10.1007/s002560050167. PMID: 8958616
Moorefield WG Jr, Miller GR
J Bone Joint Surg Am 1980 Jan;62(1):113-9. PMID: 7351402

Diagnosis

Senturk L, Gulec C, Sarac Sivrikoz T, Kayserili H, Kalelioglu IH, Avci S, Has R, Coucke P, Kalayci T, Wollnik B, Karaman B, Toksoy G, Symoens S, Yigit G, Yuksel A, Basaran S, Tuysuz B, Altunoglu U, Uyguner ZO
Fetal Diagn Ther 2024;51(3):285-299. Epub 2024 Feb 12 doi: 10.1159/000536324. PMID: 38346409
Itai T, Wang Z, Nishimura G, Ohashi H, Guo L, Wakano Y, Sugiura T, Hayakawa H, Okada M, Saisu T, Kitta A, Doi H, Kurosawa K, Hotta Y, Hosono K, Sato M, Shimizu K, Takikawa K, Watanabe S, Ikeda N, Suzuki M, Fujita A, Uchiyama Y, Tsuchida N, Miyatake S, Miyake N, Matsumoto N, Ikegawa S
Clin Genet 2022 Jul;102(1):3-11. Epub 2022 Apr 5 doi: 10.1111/cge.14133. PMID: 35342932
Bowden SA, Adler BH
Osteoporos Int 2018 Feb;29(2):511-515. Epub 2017 Oct 18 doi: 10.1007/s00198-017-4267-x. PMID: 29046930
Okada K, Miyakoshi N, Takahashi S, Ishigaki S, Nishida J, Itoi E
Ultrasound Med Biol 2003 Jul;29(7):1061-4. doi: 10.1016/s0301-5629(03)00906-2. PMID: 12878253
Nishimura G, Haga N, Ikeuchi S, Yamaguchi T, Aoki K, Yamato M
Skeletal Radiol 1996 Nov;25(8):717-22. doi: 10.1007/s002560050167. PMID: 8958616

Therapy

Bowden SA, Adler BH
Osteoporos Int 2018 Feb;29(2):511-515. Epub 2017 Oct 18 doi: 10.1007/s00198-017-4267-x. PMID: 29046930

Prognosis

Chen FP, Chang LC
J Formos Med Assoc 1996 May;95(5):386-9. PMID: 8688703
Escobar LF, Bixler D, Sadove M, Bull MJ
Am J Med Genet 1988 Apr;29(4):829-36. doi: 10.1002/ajmg.1320290412. PMID: 3041834
Moorefield WG Jr, Miller GR
J Bone Joint Surg Am 1980 Jan;62(1):113-9. PMID: 7351402

Clinical prediction guides

Senturk L, Gulec C, Sarac Sivrikoz T, Kayserili H, Kalelioglu IH, Avci S, Has R, Coucke P, Kalayci T, Wollnik B, Karaman B, Toksoy G, Symoens S, Yigit G, Yuksel A, Basaran S, Tuysuz B, Altunoglu U, Uyguner ZO
Fetal Diagn Ther 2024;51(3):285-299. Epub 2024 Feb 12 doi: 10.1159/000536324. PMID: 38346409
Scorcelletti M, Kara S, Zange J, Jordan J, Semler O, Schönau E, Rittweger J, Ireland A, Seefried L
Osteoporos Int 2022 Jul;33(7):1601-1611. Epub 2022 Apr 18 doi: 10.1007/s00198-022-06385-z. PMID: 35435480Free PMC Article
Itai T, Wang Z, Nishimura G, Ohashi H, Guo L, Wakano Y, Sugiura T, Hayakawa H, Okada M, Saisu T, Kitta A, Doi H, Kurosawa K, Hotta Y, Hosono K, Sato M, Shimizu K, Takikawa K, Watanabe S, Ikeda N, Suzuki M, Fujita A, Uchiyama Y, Tsuchida N, Miyatake S, Miyake N, Matsumoto N, Ikegawa S
Clin Genet 2022 Jul;102(1):3-11. Epub 2022 Apr 5 doi: 10.1111/cge.14133. PMID: 35342932
Bowden SA, Adler BH
Osteoporos Int 2018 Feb;29(2):511-515. Epub 2017 Oct 18 doi: 10.1007/s00198-017-4267-x. PMID: 29046930
Thomas KA, Harris MB, Willis MC, Lu Y, MacEwen GD
Orthopedics 1995 Apr;18(4):373-83. doi: 10.3928/0147-7447-19950401-11. PMID: 7603921

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