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Fryns Syndrome - Case Report. Documentation of Anomalies not Described Previously and Review of the Literature

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Bacewicz L., Polnik D., Ganowicz J., Apanasiewicz A., Kaliciński P.
Polish Journal of Surgery
|
2009
|
vol. 81
|
issue 3
149-155
EN
Fryns syndrome is a rare and most often lethal autosomal recessive complex congenital malformation. We report on a case of Fryns syndrome with "coarse facies", broad nasal bridge, dysmorphic low-appearing ears, left cleft lip and palate, left congenital diaphragmatic hernia with lung hypoplasia, distal digital limb hypoplasia of fifth's finger and thumbs, ureter ectopia to the persistent urogenital sinus, bilateral megaureters and hydronephrosis, agenesia of corpus callosum, hernia of the umbilical cord, Meckel's diverticulum, malrotation, choledochal cyst and bilateral inguinal hernia. The persistent urogenital sinus with ectopic ureters and choledochal cyst were not previously described in the literature in association with other features of Fryns syndrome. These malformations add to our knowledge of the phenotype of Fryns syndrome.
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