Osteogenesis imperfecta - Revision history

ClaireLewis at 00:18, 27 January 2019

2019-01-27T00:18:48Z

← Revisión anterior		Revisión del 00:18 27 ene 2019
Línea 53:		Línea 53:
	Cardiopulmonary		Cardiopulmonary
	* Kyphoscoliosis causing restrictive lung disease		* Kyphoscoliosis causing restrictive lung disease
	* Pneumonia		* [[Pneumonia]]
	* Cor ~~Pulmonale~~		* [[Cor pulmonale]]
	* Tricuspid regurgitation		* Tricuspid regurgitation
	* Aortic root dilation		* Aortic root dilation
	* Left ventricular hypertrophy		* [[Left ventricular hypertrophy]]
	Neurological		Neurological
	* Hydrocephalus		* [[Hydrocephalus]]
	* Basilar Invagination (headache, dysphagia, ataxia)		* Basilar Invagination ([[headache]], [[dysphagia]], [[ataxia]])

	==Disposition==		==Disposition==

ClaireLewis: /* Differential Diagnosis */

2019-01-27T00:16:57Z

Differential Diagnosis

← Revisión anterior		Revisión del 00:16 27 ene 2019
Línea 34:		Línea 34:

	==Differential Diagnosis==		==Differential Diagnosis==
	* Child abuse		* [[Child abuse]]
	* Primary juvenile osteoporosis		* Primary juvenile osteoporosis
	* Hypogonadism		* Hypogonadism

Taleesha at 21:18, 24 August 2017

2017-08-24T21:18:12Z

← Revisión anterior		Revisión del 21:18 24 ago 2017
Línea 5:		Línea 5:

	==Clinical Features<ref name="Marini" />==		==Clinical Features<ref name="Marini" />==
	Type I		Type I: Osteogenesis imperfecta tarda
	* Fragile bones with fractures occurring after minimal trauma.		* Fragile bones with fractures occurring after minimal trauma.
			* Presents in early infancy
	* Blue sclera		* Blue sclera
	* Hearing loss (50%)		* Hearing loss (50%)
	* Dentinogenesis imperfecta in some (opalescent or yellow-brown discoloration of tooth enamel)		* Dentinogenesis imperfecta in some (opalescent or yellow-brown discoloration of tooth enamel)

	Type II		Type II: Osteogenesis imperfecta congenita
	* Lethal perinatally or before 1st year of life		* Lethal perinatally or before 1st year of life
			* Most common cause of death is pulmonary hypoplasia
	* Severe deformity		* Severe deformity

Mholtz at 08:23, 23 August 2017

2017-08-23T08:23:46Z

← Revisión anterior		Revisión del 08:23 23 ago 2017
Línea 1:		Línea 1:
	==Background==		==Background==
	* Also called brittle bone disease. (1)		* Also called brittle bone disease.<ref name="Marini">Marini J, Smith SM. Osteogenesis Imperfecta. [Updated 2015 Apr 22]. In: De Groot LJ, Chrousos G, Dungan K, et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK279109/</ref>
	* Most commonly secondary to a genetic defect in type I collagen with autosomal dominant inheritance. ~~(1)~~		* Most commonly secondary to a genetic defect in type I collagen with autosomal dominant inheritance.<ref name="Marini" />
	* Presentation age varies by severity and subtype. May be discovered en utero or go undetected until middle age. ~~(1)~~		* Presentation age varies by severity and subtype. May be discovered en utero or go undetected until middle age.<ref name="Marini" />

	==Clinical Features==		==Clinical Features<ref name="Marini" />==
	Type I ~~(1)~~		Type I
	* Fragile bones with fractures occurring after minimal trauma.		* Fragile bones with fractures occurring after minimal trauma.
	* Blue sclera		* Blue sclera
Línea 11:		Línea 11:
	* Dentinogenesis imperfecta in some (opalescent or yellow-brown discoloration of tooth enamel)		* Dentinogenesis imperfecta in some (opalescent or yellow-brown discoloration of tooth enamel)

	Type II ~~(1)~~		Type II
	* Lethal perinatally or before 1st year of life		* Lethal perinatally or before 1st year of life
	* Severe deformity		* Severe deformity

	Type III ~~(1)~~		Type III
	* Fragile bones with fractures occurring after minimal trauma.		* Fragile bones with fractures occurring after minimal trauma.
	* Bone deformity (progressive)		* Bone deformity (progressive)
Línea 23:		Línea 23:
	* Short stature		* Short stature

	Type IV ~~(1)~~		Type IV
	* Fragile bones with fractures occurring after minimal trauma.		* Fragile bones with fractures occurring after minimal trauma.
	* Bone deformity		* Bone deformity
Línea 31:		Línea 31:
	* Dentiogenesis Imperfecta in some		* Dentiogenesis Imperfecta in some

	==Differential Diagnosis ~~(1)~~==		==Differential Diagnosis==
	* Child abuse		* Child abuse
	* Primary juvenile osteoporosis		* Primary juvenile osteoporosis
Línea 37:		Línea 37:
	* Malignancy		* Malignancy

	==Evaluation ~~(1-2)~~==		==Evaluation==
	* Family history		* Family history
	* Plain films		* Plain films
Línea 43:		Línea 43:

	==Management==		==Management==
	* Fracture reduction and splinting (2)		* Fracture reduction and splinting<ref name="Canavese">F. Canavese, A. Samba, M. Rousset, Pathological fractures in children: Diagnosis and treatment options, Orthopaedics & Traumatology: Surgery & Research, Volume 102, Issue 1, 2016, Pages S149-S159, ISSN 1877-0568, http://dx.doi.org/10.1016/j.otsr.2015.05.010. (http://www.sciencedirect.com/science/article/pii/S1877056815003461)</ref>
	* Physical therapy ~~(4)~~		* Physical therapy<ref name="Marr">Marr C, Seasman A, Bishop N. Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. Journal of Multidisciplinary Healthcare. 2017;10:145-155. doi:10.2147/JMDH.S113483.</ref>
	* Fracture risk reduction with activity restriction (~~3-4~~)		* Fracture risk reduction with activity restriction<ref name="Shaker">Shaker JL, Albert C, Fritz J, Harris G. Recent developments in osteogenesis imperfecta. F1000Research. 2015;4(F1000 Faculty Rev):681. doi:10.12688/f1000research.6398.1.</ref>
	* Recommendation for genetic counseling ~~(1)~~		* Recommendation for genetic counseling

	==Complications==		==Complications==
	Cardiopulmonary ~~(1)~~		Cardiopulmonary
	* Kyphoscoliosis causing restrictive lung disease		* Kyphoscoliosis causing restrictive lung disease
	* Pneumonia		* Pneumonia
Línea 56:		Línea 56:
	* Aortic root dilation		* Aortic root dilation
	* Left ventricular hypertrophy		* Left ventricular hypertrophy
	Neurological ~~(1)~~		Neurological
	* Hydrocephalus		* Hydrocephalus
	* Basilar Invagination (headache, dysphagia, ataxia)		* Basilar Invagination (headache, dysphagia, ataxia)
Línea 65:		Línea 65:

	==See Also==		==See Also==


	==External Links==		==External Links==


	==References==		==References==
	<references/>		<references/>
	~~# Marini J, Smith SM. Osteogenesis Imperfecta.~~ [~~Updated 2015 Apr 22~~]~~. In: De Groot LJ, Chrousos G, Dungan K, et al., editors. Endotext [Internet~~]~~. South Dartmouth (MA): MDText.com, Inc.; 2000-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK279109/~~
	# F. Canavese, A. Samba, M. Rousset, Pathological fractures in children: Diagnosis and treatment options, Orthopaedics & Traumatology: Surgery & Research, Volume 102, Issue 1, 2016, Pages S149-S159, ISSN 1877-0568, http://dx.doi.org/10.1016/j.otsr.2015.05.010. (http://www.sciencedirect.com/science/article/pii/S1877056815003461) Keywords: Pathological fracture; Children; Congenital disease; Infection; Tumor
	~~# Shaker JL, Albert C, Fritz J, Harris G. Recent developments in osteogenesis imperfecta. F1000Research. 2015;4(F1000 Faculty Rev):681. doi:10.12688/f1000research.6398.1.~~		[[Category:Orthopedics]]
	~~# Marr C, Seasman A, Bishop N. Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. Journal of Multidisciplinary Healthcare. 2017;10:145-155. doi:10.2147/JMDH.S113483.~~

Jmorrison: Created page with "==Background== * Also called brittle bone disease. (1) * Most commonly secondary to a genetic defect in type I collagen with autosomal dominant inheritance. (1) * Presentatio..."

2017-08-21T11:34:23Z

Created page with "==Background== * Also called brittle bone disease. (1) * Most commonly secondary to a genetic defect in type I collagen with autosomal dominant inheritance. (1) * Presentatio..."

Página nueva

==Background==
* Also called brittle bone disease. (1)
* Most commonly secondary to a genetic defect in type I collagen with autosomal dominant inheritance. (1)
* Presentation age varies by severity and subtype. May be discovered en utero or go undetected until middle age. (1)

==Clinical Features==
Type I (1)
* Fragile bones with fractures occurring after minimal trauma.
* Blue sclera
* Hearing loss (50%)
* Dentinogenesis imperfecta in some (opalescent or yellow-brown discoloration of tooth enamel)

Type II (1)
* Lethal perinatally or before 1st year of life
* Severe deformity

Type III (1)
* Fragile bones with fractures occurring after minimal trauma.
* Bone deformity (progressive)
* Blue sclera (variable, may fade with age)
* Hearing loss
* Dentinogenesis imperfecta
* Short stature

Type IV (1)
* Fragile bones with fractures occurring after minimal trauma.
* Bone deformity
* Short stature (variable)
* Hearing loss in some
* White or blue sclera
* Dentiogenesis Imperfecta in some

==Differential Diagnosis (1)==
* Child abuse
* Primary juvenile osteoporosis
* Hypogonadism
* Malignancy

==Evaluation (1-2)==
* Family history
* Plain films
* DEXA scan and collagen studies (as outpatient)

==Management==
* Fracture reduction and splinting (2)
* Physical therapy (4)
* Fracture risk reduction with activity restriction (3-4)
* Recommendation for genetic counseling (1)

==Complications==
Cardiopulmonary (1)
* Kyphoscoliosis causing restrictive lung disease
* Pneumonia
* Cor Pulmonale
* Tricuspid regurgitation
* Aortic root dilation
* Left ventricular hypertrophy
Neurological (1)
* Hydrocephalus
* Basilar Invagination (headache, dysphagia, ataxia)

==Disposition==
* Home after splinting
* May admit if surgical fixation is required

==See Also==

==External Links==

==References==
<references/>
# Marini J, Smith SM. Osteogenesis Imperfecta. [Updated 2015 Apr 22]. In: De Groot LJ, Chrousos G, Dungan K, et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK279109/
# F. Canavese, A. Samba, M. Rousset, Pathological fractures in children: Diagnosis and treatment options, Orthopaedics & Traumatology: Surgery & Research, Volume 102, Issue 1, 2016, Pages S149-S159, ISSN 1877-0568, http://dx.doi.org/10.1016/j.otsr.2015.05.010. (http://www.sciencedirect.com/science/article/pii/S1877056815003461) Keywords: Pathological fracture; Children; Congenital disease; Infection; Tumor
# Shaker JL, Albert C, Fritz J, Harris G. Recent developments in osteogenesis imperfecta. F1000Research. 2015;4(F1000 Faculty Rev):681. doi:10.12688/f1000research.6398.1.
# Marr C, Seasman A, Bishop N. Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. Journal of Multidisciplinary Healthcare. 2017;10:145-155. doi:10.2147/JMDH.S113483.