Lethal multiple pterygium syndrome.
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ABSTRACT:
SUBMITTER: Joshi T
PROVIDER: S-EPMC5084588 | biostudies-literature | 2016 Apr-Jun
REPOSITORIES: biostudies-literature
Publications
Lethal multiple pterygium syndrome.
Joshi Tulika T Noor Nazia Nagori NN Kural Moolraj M Tripathi Amita A
Journal of family medicine and primary care 20160401 2
The multiple pterygium syndrome is consist of wide range of fetal malformations which have a genetic linkage. A defect in embryonic acetylcholine receptor which can be inherited as autosomal recessive, autosomal dominant, or X-linked fashion is the cause of this syndrome. We present a sporadic case of lethal multiple pterygium syndrome. ...[more]
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Project description:Multiple pterygium syndrome of lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterised by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits and fingers. We present a case of lethal multiple pterygium syndrome born at our hospital proven by the genetic analysis showing a double homozygous mutation.
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