User:Rcej/Sandbox and Eichiro Oda: Difference between pages

From Wikipedia, the free encyclopedia
< User:Rcej
(Difference between pages)
Content deleted Content added
VisualWikitext
 
Redirect fixer (talk | contribs)
69,018 edits
Eiichiro Oda has been moved; it now redirects to Eiichirō Oda.
 
Line 1: Line 1:
#REDIRECT [[Eiichirō Oda]]
''Welcome to my article construction zone.... pardon the mess.'' --'''Bobby'''

{{Infobox_Disease |
Name = {{PAGENAME}} |
Image = |
Caption = |
DiseasesDB = 34294 |
ICD10 = {{ICD10|Q|77|9|q|77}} |
ICD9 = {{ICD9|756.4}} |
ICDO = |
OMIM = 228520 |
MedlinePlus = |
eMedicineSubj = |
eMedicineTopic = |
MeshID = |
}}

'''Fibrochondrogenesis''' is a very rare<ref name=fcg05>{{cite journal |author=Kulkarni ML, Matadh PS, Praveen Prabhu SP, Kulkarni PM |title=Fibrochondrogenesis |journal=Indian J Pediatr. |volume=72 |issue=4 |pages=355–357 |month=Apr |year=2005 |pmid=15876767 |doi=10.1007/BF02724021 }}</ref> [[autosome|autosomal]] [[dominance (genetics)|recessive]]<ref name=fcg04>{{cite journal |author=Leeners B, Funk A, Cotarelo CL, Sauer I |title=Two sibs with fibrochondrogenesis |journal=Am J Med Genet A. |volume=127 A |issue=3 |pages=318–320 |month=Jun |year=2004 |pmid=15150788 |doi=10.1002/ajmg.a.20620 }}</ref> form of [[osteochondrodysplasia]],<ref name=fcg02>{{cite journal |author=Randrianaivo H, Haddad G, Roman H, Delezoide AL, Toutain A, Le Merrer M, Moraine C |title=Fetal fibrochondrogenesis at 26 weeks gestation |journal=Prenat Diagn. |volume=22 |issue=9 |pages=806–810 |month=Sep |year=2002 |pmid=12224076 |doi=10.1002/pd.423 }}</ref> causing abnormal fibrous development of [[cartilage]] and related [[tissue (biology)|tissues]].<ref name=autor84>{{cite journal |author=Whitley CB, Langer LO Jr., Ophoven J, Gilbert EF, Gonzalez CH, Mammel M, Coleman M, Rosemberg S, Rodriques CJ, Sibley R, et al. |title=Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology |journal=Am J Med Genet. |volume=19 |issue=2 |pages=265–275 |month= |year=1984 |pmid=6507478 |doi=10.1002/ajmg.1320190209 }}</ref>

It is a lethal [[rhizomelia|rhizomelic]] (malformations which result in short, underdeveloped limbs) form of [[dwarfism]],<ref name=fcg05/> exhibiting both [[skeletal dysplasia]] (malformations of [[bone]]) and [[fibroblastic dysplasia]] (abnormal development of [[fibroblast]]s, specialized [[cell (biology)|cells]] that make up [[fibrous connective tissue]], which plays a role in the formation of cellular structure and promotes healing of damaged [[tissue (biology)|tissues]]).<ref name=autor84/><ref name=fcg78>{{cite journal |author=Lazzaroni-Fossati F, Stanescu V, Stanescu R, Serra G, Magliano P, Maroteaux P |title=Fibrochondrogenesis |journal=Arch Fr Pediatr. |volume=35 |issue=10 |pages=1096–1104 |year=1978 |pmid=749746 }}</ref><ref name=fcg84>{{cite journal |author=Eteson DJ, Adomian GE, Ornoy A, Koide T, Sugiura Y, Calabro A, Lungarotti S, Mastroiacovo P, Lachman RS, Rimoin DL |title=Fibrochondrogenesis: radiologic and histologic studies |journal=Am J Med Genet. |volume=19 |issue=2 |pages=277–290 |year=1984 |pmid=6507479 |doi=10.1002/ajmg.1320190210 }}</ref> Death caused by complications of fibrochondrogenesis occurs in [[infant|infancy]].<ref name=fcg84/>

== Presentation ==
Fibrochondrogenesis is a [[congenital disorder]] presenting several features and [[radiology|radiological]] findings, some which distinguish it from other osteochondrodysplasias.<ref name=fcg98>{{cite journal |pmid=9475607 |year=1998 |month=Jan |author=Hunt NC, Vujanić GM |title=Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype |volume=75 |issue=3 |pages=326–329 |issn=0148-7299 |journal=American journal of medical genetics |doi=10.1002/(SICI)1096-8628(19980123)75:3<326::AID-AJMG20>3.0.CO;2-Q}}</ref> These include: fibroblastic dysplasia and [[fibrosis]] of [[chondrocyte]]s (cells which form cartilage);<ref name=autor84/><ref name=fcg78/> and flared, widened
[[long bone]] [[metaphysis|metaphyses]] (the portion of bone that grows during childhood).<ref name=fcg84/><ref name=preult98>{{cite journal |pmid=9759906 |year=1998 |month=Jul |author=Mégarbané A, Haddad S, Berjaoui L |title=Prenatal ultrasonography: clinical and radiological findings in a boy with fibrochondrogenesis |volume=15 |issue=7 |pages=403–407 |issn=0735-1631 |journal=American journal of perinatology}}</ref>

Other prominent features include dwarfism,<ref name=fcg05/> shortened [[rib]]s that have a [[concave]] appearance,<ref name=fcg84/> [[micrognathism]] (severely underdeveloped [[jaw]]),<ref name=fcg98/> [[macrocephaly]] (enlarged head),<ref name=preult98/> [[chest|thoracic]] [[hypoplasia]] (underdeveloped chest),<ref name=preult98/> enlarged [[stomach]],<ref name=preult98/> [[platyspondyly]] (flattened [[vertebral column|spine]]),<ref name=fcg84/> and the somewhat uncommon deformity of [[wikt:bifurcation|bifid]] [[tongue]] (in which the tongue appears split, resembling that of a [[reptile]]).<ref name=fcg98/>

The cause of platyspondyly in fibrochondrogenesis can be attributed in part to odd malformations and structural flaws found in the [[body of vertebra|vertebral bodies]] of the spinal column in affected infants.<ref name=autor84/><ref name=fcg84/>

Fibrochondrogenesis alters the normal function of chondrocytes, fibroblasts, metaphyseal cells and others associated with cartilage, bone and [[connective tissue]]s.<ref name=fcg04/><ref name=fcg02/><ref name=autor84/> Overwhelming
disorganization of cellular processes involved in the formation of cartilage and bone ([[ossification]]), in combination with fibroblastic degeneration of these cells, developmental errors and systemic skeletal malformations describes the severity of this lethal osteochondrodysplasia.<ref name=fcg02/><ref name=autor84/><ref name=fcg84/><ref name=preult98/>

== Genetics ==
Fibrochondrogenesis is inherited in an autosomal recessive pattern.<ref name=autor84/> This means that the defective [[gene]] responsible for the disorder is located on an [[autosome]], and two copies of the gene - one copy inherited from both parents - are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder each [[genetic carrier|carry]] one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

[[Image:Autorecessive.jpg|thumb|right|{{PAGENAME}} has an autosomal recessive pattern of [[heredity|inheritance]].]]

Currently, no specific genetic [[mutation]] has been established as the cause of fibrochondrogenesis.<ref>{{OMIM|282520}}</ref>

[[Omphalocele]] is a congenital feature where the [[abdominal wall]] has an opening, partially exposing the [[Viscus#Abdomen|abdominal viscera]] (typically, the [[organ (anatomy)|organs]] of the [[gastrointestinal tract]]). Fibrochondrogenesis is believed to be related to omphalocele
type III, suggesting a possible genetic association between the two disorders.<ref name=omph>{{cite journal |author=Chen CP |title=Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others |journal=Taiwan J Obstet Gynecol. |volume=46 |issue=2 |pages=111–120 |month=Jan |year=2007 |pmid=17638618 |doi=10.1016/S1028-4559(07)60004-7 }}</ref>

== Prevalence ==
Fibrochondrogenesis is quite rare.<ref name=fcg05/> A [[1996]] study from [[Spain]] determined a national minimal prevalence for the disorder at 8 cases out of 1,158,067 live births.<ref name=fcgesp>{{cite journal |pmid=8733059 |year=1996 |month=May |author=Martínez-Frías ML, García A, Cuevas J, Rodríguez JI, Urioste M |title=A new case of fibrochondrogenesis from Spain. |volume=33 |issue=5 |pages=429–431 |issn=0022-2593 |pmc=1050618 |journal=J Med Genet.}}</ref>

A [[United Arab Emirates]] (UAE) [[United Arab Emirates University|University]] report, in early [[2003]], evaluated the results of a 5-year study on the occurrence of a broad range of osteochondrodysplasias.<ref name=fcguae>{{cite journal |pmid=12769508 |year=2003 |month=Feb |author=Al-Gazali LI, Bakir M, Hamid Z, Varady E, Varghes M, Haas D, Bener A, Padmanabhan R, Abdulrrazzaq YM, Dawadu A |title=Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population. |volume=67 |issue=2 |pages=125–132 |issn=1542-0752 |doi=10.1002/bdra.10009 |journal=Birth defects research. Part A, Clinical and molecular teratology}}</ref> Out of 38,048 newborns in [[Al Ain]], over the course of the study period, fibrochondrogenesis was found to be the most common of the recessive forms of osteochondrodysplasia, with a prevalence ratio of 1.05:10,000 births.<ref name=fcguae/>

While this number represented the most common occurrence out of the group studied, it did not dispute the rarity of fibrochondrogenesis. The study also included


| |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||()
{{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||()
{{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||()

==8==
{{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||()
{{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||()
{{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||()

==7==
{{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||()
{{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||()
{{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||()
==6==
{{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM<>:::|||(){{| |:(:) | |121212 |121212 |121212 |121212 |12212 }}<>
LM


==See also==
*[[]]
*[[ ]]
*[[ ]]

==References==
{{Reflist}}
<br/>

{{ }}

Category:Genetic disorders
Category:
Category:
Category:

Revision as of 07:06, 13 October 2008

Redirect to:

Retrieved from "https://en.wikipedia.org/w/index.php?title=User:Rcej/Sandbox&oldid=244940460"