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.
Spontaneous corneal perforation is very rare in neonates and children. Peters anomaly is associated with spontaneous corneal perforation. Herein, we describe a case of spontaneous corneal perforation in a 13- day-old Saudi infant who was admitted to the neonatal intensive care unit since birth. This report is important to gain more information about corneal perforation clinical presentation in neonates, investigation, and management.
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