Fryns syndrome: a predictable, lethal pattern of multiple congenital anomalies |
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Authors: | A Samueloff D Navot A Birkenfeld J G Schenker |
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Affiliation: | Department of Obstetrics and Gynecology, Hadassah University Hospital Jerusalem, Israel. |
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Abstract: | Fryns syndrome is a unique pattern of lethal multiple congenital malformations with variable expression. A family in which all four sibs conformed to Fryns syndrome is detailed and substantiates the criteria for definition of the syndrome; perinatal mortality, hypoplastic lungs, and facial deformities should be highly suggestive of the syndrome. The addition of a strong family history, diaphragmatic hernias, distal limb deformities, and early onset of polyhydramnios with subsequent premature delivery should definitely confirm the diagnosis. |
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