Pena-Shokeir phenotype: A lethal pattern of multiple congenital anomalies.
Pena-Shokeir phenotype is a unique pattern of lethal multiple congenital anomalies with variable expression. The history of a family in which two sibs conform to Pena-Shokeir phenotype is detailed and substantiates the criteria for definition of the phenotype. The addition of a peculiar ultrasound presentation in the antenatal period may indicate the condition.
Warda
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A
Departments of Obstetrics/Gynecology and Pediatrics, King Abdulaziz University, College of Medicine, Jeddah, Saudi Arabia.
Abduljabbar
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Ghafouri
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Basalamah
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AH