Musculoskeletal System - Limb Abnormalities - Revision history

Z8600021 at 05:50, 8 Haziran 2020

2020-06-08T05:50:25Z

← Older revision		Revision as of 16:50, 8 Haziran 2020
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	:'''Links:''' [[Integumentary System - Nail Development\|Nail Development]] \| [[Integumentary_System_-_Abnormalities\|Integumentary Abnormalities]]		:'''Links:''' [[Integumentary System - Nail Development\|Nail Development]] \| [[Integumentary_System_-_Abnormalities\|Integumentary Abnormalities]]

	== References ==		== References ==
	<references/>		<references/>
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	===Reviews===		===Reviews===
			{{#pmid:32472371}}

	{{#pmid:31637260}}		{{#pmid:31637260}}

Z8600021 at 05:42, 9 March 2020

2020-03-09T05:42:07Z

← Older revision		Revision as of 16:42, 9 March 2020
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	===Reviews===		===Reviews===
			{{#pmid:31637260}}

	{{#pmid:22379552}}		{{#pmid:22379552}}

Z8600021 at 04:56, 21 November 2019

2019-11-21T04:56:28Z

← Older revision		Revision as of 15:56, 21 November 2019
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	{{Musculoskeletal Links}}		{{Musculoskeletal Links}}

			{\| class="wikitable mw-collapsible mw-collapsed"
			! System Abnormalities
			\|-
			\| {{Abnormality Links}}
			\|}
	==Some Recent Findings==		==Some Recent Findings==
	[[File:France - Ain - Brittany - Loire-Atlantique.jpg\|thumb\|200px\|alt - French Map regions Ain, Brittany and Loire-Atlantique\|French regions - Ain, Brittany and Loire-Atlantique]]		[[File:France - Ain - Brittany - Loire-Atlantique.jpg\|thumb\|200px\|alt - French Map regions Ain, Brittany and Loire-Atlantique\|French regions - Ain, Brittany and Loire-Atlantique]]

Z8600021 at 03:40, 3 November 2019

2019-11-03T03:40:50Z

← Older revision		Revision as of 14:40, 3 November 2019
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	\|-bgcolor="F5FAFF"		\|-bgcolor="F5FAFF"
	\|		\|
			* '''Review of the Genetics and Pathogenesis of Syndactyly in Humans and Experimental Animals - A 3-Step Pathway of Pathogenesis'''{{#pmid:31637260\|PMID31637260}} "Embryology of normal web space creation and the genetics of syndactyly in humans and experimental animals are well described in the literature. In this review, the author offers a 3-step pathway of pathogenesis for syndactyly. The first step is initiated either by the overactivation of the {{WNT}} canonical pathway or the suppression of the Bone Morphogenetic Protein ({{BMP}}) canonical pathway. This leads to an overexpression of Fibroblast Growth Factor 8 ({{FGF}}8). The final step is the suppression of retinoic acid in the interdigital mesenchyme leading to suppression of both apoptosis and extracellular matrix (ECM) degradation, resulting in syndactyly."

	* '''Epidemiology of limb reduction defects as registered in the Medical Birth Registry of Norway, 1970-2016: Population based study'''{{#pmid:31314783\|PMID31314783}} "Following the {{Thalidomide}} disaster, the Medical Birth Registry of Norway (MBRN) was established in 1967, with epidemiological surveillance of congenital anomalies as one main aim. Limb reduction defects (LRD) constitute a rare and heterogeneous anomaly group, where correct registration and classification is important for surveillance and research. We aimed at reviewing and recoding LRD cases in the MBRN using the same classification system for all years, and evaluate time trends, characteristics and risk factors, 1970-2016. METHODS: After reviewing and recoding LRD cases using International Classification of Diseases (ICD), 10th version, for all years, time trends, association with major anomalies, risk factors and infant outcomes were calculated. Generalized linear models for the binomial family with log link gave relative risks (RR) with 95% confidence intervals (CI). Classification of LRD as suggested by European surveillance of congenital anomalies (EUROCAT) was attempted. RESULTS: Overall LRD prevalence, 1970-2016, was 4.4 per 10 000, slightly increasing during 1970-1981, followed by relatively stable rates. There were more defects in upper than lower limbs. Defects in hands/fingers were most common, but unspecific descriptions prevented classification of LRD according to EUROCAT. A majority of cases had associated anomalies, the most common being other limb defects, followed by cardiac defects and anomalies in the nervous and digestive systems. From 1999, 26% of LRD cases were terminated, more than 90% of these had associated major anomalies. Stillbirth, neonatal and infant mortality were higher among infants with LRD, also related to associated anomalies. Pre-gestational diabetes was associated with a more than three times increased risk of offspring total LRD, while no association with maternal epilepsy was found. Taking {{folate}}/multivitamin supplements before and/or during pregnancy was associated with lower risk of offspring LRD (adjusted RR 0.7; 95% CI 0.6-0.9), while daily smoking did not significantly increase the risk."		* '''Epidemiology of limb reduction defects as registered in the Medical Birth Registry of Norway, 1970-2016: Population based study'''{{#pmid:31314783\|PMID31314783}} "Following the {{Thalidomide}} disaster, the Medical Birth Registry of Norway (MBRN) was established in 1967, with epidemiological surveillance of congenital anomalies as one main aim. Limb reduction defects (LRD) constitute a rare and heterogeneous anomaly group, where correct registration and classification is important for surveillance and research. We aimed at reviewing and recoding LRD cases in the MBRN using the same classification system for all years, and evaluate time trends, characteristics and risk factors, 1970-2016. METHODS: After reviewing and recoding LRD cases using International Classification of Diseases (ICD), 10th version, for all years, time trends, association with major anomalies, risk factors and infant outcomes were calculated. Generalized linear models for the binomial family with log link gave relative risks (RR) with 95% confidence intervals (CI). Classification of LRD as suggested by European surveillance of congenital anomalies (EUROCAT) was attempted. RESULTS: Overall LRD prevalence, 1970-2016, was 4.4 per 10 000, slightly increasing during 1970-1981, followed by relatively stable rates. There were more defects in upper than lower limbs. Defects in hands/fingers were most common, but unspecific descriptions prevented classification of LRD according to EUROCAT. A majority of cases had associated anomalies, the most common being other limb defects, followed by cardiac defects and anomalies in the nervous and digestive systems. From 1999, 26% of LRD cases were terminated, more than 90% of these had associated major anomalies. Stillbirth, neonatal and infant mortality were higher among infants with LRD, also related to associated anomalies. Pre-gestational diabetes was associated with a more than three times increased risk of offspring total LRD, while no association with maternal epilepsy was found. Taking {{folate}}/multivitamin supplements before and/or during pregnancy was associated with lower risk of offspring LRD (adjusted RR 0.7; 95% CI 0.6-0.9), while daily smoking did not significantly increase the risk."

Z8600021 at 02:29, 26 July 2019

2019-07-26T02:29:45Z

← Older revision		Revision as of 13:29, 26 July 2019
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	== Syndactyly ==		== Syndactyly ==
			{\|
			\|-bgcolor="FEF9E7"
			\| {{ICD-11}} {{ICD11weblink}}1736296640 '''LB79 Syndactyly'''] - LB79.0 Fused fingers \| LB79.1 Webbed fingers \| LB79.2 Fused toes \| LB79.3 Webbed toes
			\|}

	[[File:Syndactyly.jpg\|thumb\|Syndactyly]]		[[File:Syndactyly.jpg\|thumb\|Syndactyly]]
	Fusion of fingers or toes (Greek, ''syn'' = together, ''dactyly'' = digit) which may be single or multiple and may affect: skin only, skin and soft tissues or skin, soft tissues and bone. The condition is unimportant in toes but disabling in fingers and requires operative separation and is frequently inherited as an autosomal dominant. The presence of this additional "webbing" reflects preservation of the developmental tissues that in normal development are removed by programmed cell death (apotosis).		Fusion of fingers or toes (Greek, ''syn'' = together, ''dactyly'' = digit) which may be single or multiple and may affect: skin only, skin and soft tissues or skin, soft tissues and bone. The condition is unimportant in toes but disabling in fingers and requires operative separation and is frequently inherited as an autosomal dominant. The presence of this additional "webbing" reflects preservation of the developmental tissues that in normal development are removed by programmed cell death (apotosis).
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	== Brachydactyly ==		== Brachydactyly ==
			{\|
			\|-bgcolor="FEF9E7"
			\| {{ICD-11}} {{ICD11weblink}}598200019 '''LB75 Brachydactyly'''] - LB75.0 Brachydactyly of fingers \| LB75.1 Brachydactyly of toes \| LB75.2 Symbrachydactyly of hands or feet
			\|}

	Middle phalanges of both hands and feet are very short (Greek, ''brachys'' = short, ''dactyly'' = digit) in length or absent. Condition can also be associated with endocrine abnormality, pseudohypoparathyroidism (end-organ unresponsiveness to parathyroid hormone) leading to short stature, round facies, brachydactyly, and short fourth or fifth metacarpals.		Middle phalanges of both hands and feet are very short (Greek, ''brachys'' = short, ''dactyly'' = digit) in length or absent. Condition can also be associated with endocrine abnormality, pseudohypoparathyroidism (end-organ unresponsiveness to parathyroid hormone) leading to short stature, round facies, brachydactyly, and short fourth or fifth metacarpals.

Z8600021 at 02:27, 26 July 2019

2019-07-26T02:27:46Z

← Older revision		Revision as of 13:27, 26 July 2019
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	{{Header}}~~[[File:Stage20-23_limbs_b.jpg\|500px\|right]]~~		{{Header}}
	{{ICD-11 limb anomalies header table}}		{{ICD-11 limb anomalies header table}}
	== Introduction ==		== Introduction ==

Z8600021 at 02:27, 26 July 2019

2019-07-26T02:27:20Z

← Older revision		Revision as of 13:27, 26 July 2019
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	== Polydactyly ==		== Polydactyly ==
			{\|
			\|-bgcolor="FEF9E7"
			\| {{ICD-11}} Limb Abnormalities{{ICD11weblink}}1534380955 '''LB78 Polydactyly'''] - LB78.0 Polydactyly of the thumb \| LB78.1 Polysyndactyly \| LB78.2 Postaxial polydactyly of fingers \| LB78.3 Polydactyly of toes
			\|}
	[[File:Mall Meyer1921 fig93.jpg\|thumb\|alt=Right hand with six fingers\|Right hand with six fingers]]		[[File:Mall Meyer1921 fig93.jpg\|thumb\|alt=Right hand with six fingers\|Right hand with six fingers]]
	[[File:Polydactylia.jpg\|t300px\|left\|Polydactylia (Image: CDC Imagebank)]]		[[File:Polydactylia.jpg\|t300px\|left\|Polydactylia (Image: CDC Imagebank)]]

Z8600021 at 02:10, 26 July 2019

2019-07-26T02:10:22Z

← Older revision		Revision as of 13:10, 26 July 2019
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	{{Header}}[[File:Stage20-23_limbs_b.jpg\|500px\|right]]		{{Header}}[[File:Stage20-23_limbs_b.jpg\|500px\|right]]
			{{ICD-11 limb anomalies header table}}
	== Introduction ==		== Introduction ==
	[[File:Appendicular_skeleton.jpg\|thumb\|200px\|alt=Adult appendicular skeleton\|Adult appendicular skeleton]]		[[File:Appendicular_skeleton.jpg\|thumb\|200px\|alt=Adult appendicular skeleton\|Adult appendicular skeleton]]

Z8600021 at 01:36, 26 July 2019

2019-07-26T01:36:36Z

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 For more details see [[Developmental Hip Dysplasia]].
-{| class="wikitable mw-collapsible mw-collapsed"
+{{ICD-11 pelvic girdle anomalies header table}}
 {|

Z8600021 at 01:28, 26 July 2019

2019-07-26T01:28:10Z

← Older revision		Revision as of 12:28, 26 July 2019
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	* '''Review of triphalangeal thumb'''{{#pmid:30318985\|PMID30318985}} "Despite being a rare congenital limb anomaly, triphalangeal thumb is a subject of research in various scientific fields, providing new insights in clinical research and evolutionary biology. The findings of triphalangeal thumb can be predictive for other congenital anomalies as part of an underlying syndrome. Furthermore, triphalangeal thumb is still being used as a model in molecular genetics to study gene regulation by long-range regulatory elements. We present a review that summarizes a number of scientifically relevant topics that involve the triphalangeal thumb phenotype. Future initiatives involving multidisciplinary teams collaborating in the field of triphalangeal thumb research can lead to a better understanding of the pathogenesis and molecular mechanisms of this condition as well as other congenital upper limb anomalies." See also {{#pmid:330223699\|PMID30223699}}		* '''Review of triphalangeal thumb'''{{#pmid:30318985\|PMID30318985}} "Despite being a rare congenital limb anomaly, triphalangeal thumb is a subject of research in various scientific fields, providing new insights in clinical research and evolutionary biology. The findings of triphalangeal thumb can be predictive for other congenital anomalies as part of an underlying syndrome. Furthermore, triphalangeal thumb is still being used as a model in molecular genetics to study gene regulation by long-range regulatory elements. We present a review that summarizes a number of scientifically relevant topics that involve the triphalangeal thumb phenotype. Future initiatives involving multidisciplinary teams collaborating in the field of triphalangeal thumb research can lead to a better understanding of the pathogenesis and molecular mechanisms of this condition as well as other congenital upper limb anomalies." See also {{#pmid:330223699\|PMID30223699}}

	* '''Prenatal exposure to environmental factors and congenital limb defects'''{{#pmid:27768243\|PMID27768243}} "Limb congenital defects afflict approximately 0.6:1000 live births. In addition to genetic factors, prenatal exposure to drugs and environmental toxicants, represents a major contributing factor to limb defects. Examples of well-recognized limb teratogenic agents include thalidomide, warfarin, valproic acid, misoprostol, and phenytoin. While the mechanism by which these agents cause dymorphogenesis is increasingly clear, prediction of the limb teratogenicity of many thousands of as yet uncharacterized environmental factors (pollutants) remains inexact."

	* '''Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans'''{{#pmid:26962299\|PMID26962299}} "Radial deficiencies (RDs), defined as under/abnormal development or absence of any of the structures of the forearm, radial carpal bones and thumb, occur with a live birth incidence ranging from 1 out of 30,000 to 1 out 6,000 newborns and represent about one third/one fourth of all the congenital upper limb anomalies. About half of radial disorders have a mendelian cause and pattern of inheritance, whereas the remaining half appears sporadic with no known gene involved. In sporadic forms certain anomalies, such as thumb or radial hypoplasia, may occur either alone or in association with systemic conditions, like vertebral abnormalities or renal defects. All the cases with a mendelian inheritance are syndromic forms, which include cardiac defects (in Holt-Oram syndrome), bone marrow failure (in Fanconi anemia), platelet deficiency (in thrombocytopenia-absent-radius syndrome), ocular motility impairment (in Okihiro syndrome)."
	\|}		\|}
	{\| class="wikitable mw-collapsible mw-collapsed"		{\| class="wikitable mw-collapsible mw-collapsed"
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	\|-		\|-
	\| {{Older papers}}		\| {{Older papers}}
			* '''Prenatal exposure to environmental factors and congenital limb defects'''{{#pmid:27768243\|PMID27768243}} "Limb congenital defects afflict approximately 0.6:1000 live births. In addition to genetic factors, prenatal exposure to drugs and environmental toxicants, represents a major contributing factor to limb defects. Examples of well-recognized limb teratogenic agents include thalidomide, warfarin, valproic acid, misoprostol, and phenytoin. While the mechanism by which these agents cause dymorphogenesis is increasingly clear, prediction of the limb teratogenicity of many thousands of as yet uncharacterized environmental factors (pollutants) remains inexact."

			* '''Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans'''{{#pmid:26962299\|PMID26962299}} "Radial deficiencies (RDs), defined as under/abnormal development or absence of any of the structures of the forearm, radial carpal bones and thumb, occur with a live birth incidence ranging from 1 out of 30,000 to 1 out 6,000 newborns and represent about one third/one fourth of all the congenital upper limb anomalies. About half of radial disorders have a mendelian cause and pattern of inheritance, whereas the remaining half appears sporadic with no known gene involved. In sporadic forms certain anomalies, such as thumb or radial hypoplasia, may occur either alone or in association with systemic conditions, like vertebral abnormalities or renal defects. All the cases with a mendelian inheritance are syndromic forms, which include cardiac defects (in Holt-Oram syndrome), bone marrow failure (in Fanconi anemia), platelet deficiency (in thrombocytopenia-absent-radius syndrome), ocular motility impairment (in Okihiro syndrome)."

	* '''Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations'''{{#pmid:23028704\|PMID23028704}} "Sirenomelia is a severe congenital malformation of the lower body characterized by the fusion of the legs into a single lower limb. This striking external phenotype consistently associates severe visceral abnormalities, most commonly of the kidneys, intestine, and genitalia that generally make the condition lethal. Although the causes of sirenomelia remain unknown, clinical studies have yielded two major hypotheses: i) a primary defect in the generation of caudal mesoderm, ii) a primary vascular defect that leaves the caudal part of the embryo hypoperfused. ...We show that the signaling defect predominantly impacts the morphogenesis of the hindgut and the development of the caudal end of the dorsal aortas. The deficient formation of ventral midline structures, including the interlimb mesoderm caudal to the umbilicus, leads to the approximation and merging of the hindlimb fields."		* '''Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations'''{{#pmid:23028704\|PMID23028704}} "Sirenomelia is a severe congenital malformation of the lower body characterized by the fusion of the legs into a single lower limb. This striking external phenotype consistently associates severe visceral abnormalities, most commonly of the kidneys, intestine, and genitalia that generally make the condition lethal. Although the causes of sirenomelia remain unknown, clinical studies have yielded two major hypotheses: i) a primary defect in the generation of caudal mesoderm, ii) a primary vascular defect that leaves the caudal part of the embryo hypoperfused. ...We show that the signaling defect predominantly impacts the morphogenesis of the hindgut and the development of the caudal end of the dorsal aortas. The deficient formation of ventral midline structures, including the interlimb mesoderm caudal to the umbilicus, leads to the approximation and merging of the hindlimb fields."