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Lethal multiple pterygium syndrome
Farzeen Shuaib Mohtisham1,2, Adel Sallam1,2, Aiman Shawli2,3
1Department of Pediatrics, Neonatology Division, National Guard Hospital Affairs, King AbdulAziz Medical City, Jeddah, Saudi Arabia.
Abstract:
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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