Achondrogenesis: A Lethal Chondrodystrophy.

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dc.contributor.authorYadav, Abhijeet
dc.contributor.authorYadav, Mukul
dc.date.accessioned2015-07-08T08:54:45Z
dc.date.available2015-07-08T08:54:45Z
dc.date.issued2014-07
dc.description.abstractAchondrogenesis is a type of skeletal dysplasia. Skeletal dysplasias are the heterogeneous class of bone growth disorders resulting in abnormal shape and size of the skeleton. Here, we present a rare case of achondrogenesis which was delivered by induced abortion at 6½ months of gestation. The physical, radiological, and ultrasonographic examinations done raised the possibility of this very rare anomaly. Achondrogensis is characterized by extreme micromelia and marked discrepancy between the relatively large head and the decreased trunk length. This rare condition has got genetic mutations associated with it. Achondrogenesis resembles other chondrodystrophies, therefore, its diagnosis needs to be made promptly and accurately.en_US
dc.identifier.citationYadav Abhijeet, Yadav Mukul. Achondrogenesis: A Lethal Chondrodystrophy. IJSS Case Reports & Reviews. 2014 Jul; 1(2): 1-3.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/159294
dc.language.isoenen_US
dc.source.urihttps://www.ijsscr.com/sites/default/files/articles/IJSS-1-1.xmlen_US
dc.subjectAchondrogenesisen_US
dc.subjectInvestigationsen_US
dc.subjectSkeletal dysplasiasen_US
dc.subjectType 1 and Type 2 achondrogenesisen_US
dc.subject.meshAchondroplasia --diagnosis
dc.subject.meshAchondroplasia --epidemiology
dc.subject.meshAchondroplasia --genetics
dc.subject.meshAchondroplasia --ultrasonography
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshThanatophoric Dysplasia --diagnosis
dc.subject.meshThanatophoric Dysplasia --epidemiology
dc.subject.meshThanatophoric Dysplasia --genetics
dc.subject.meshThanatophoric Dysplasia --ultrasonography
dc.titleAchondrogenesis: A Lethal Chondrodystrophy.en_US
dc.typeArticleen_US
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