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

• Authors: Ludmiła Bacewicz , Dariusz Polnik , Jolanta Ganowicz , Artur Apanasiewicz , Piotr Kaliciński
• Languages of publication: EN

Abstracts

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.

Keywords

EN

Fryns syndrome; congenital diaphragmatic hernia; non-lethal outcome

• Publisher: Index Copernicus International
• Journal: Polish Journal of Surgery
• Year: 2009
• Volume: 81
• Issue: 3
• Pages: 149-155

Dates

published

1 - 3 - 2009

online

8 - 9 - 2009

Contributors

author

Ludmiła Bacewicz

• Department of Pediatric Surgery and Organ Transplantation, Children's Memorial Health Institute, Warsaw

author

Dariusz Polnik

• Department of Pediatric Surgery and Organ Transplantation, Children's Memorial Health Institute, Warsaw

author

Jolanta Ganowicz

• Department of Pediatric Surgery and Organ Transplantation, Children's Memorial Health Institute, Warsaw

author

Artur Apanasiewicz

• Department of Pediatric Surgery and Organ Transplantation, Children's Memorial Health Institute, Warsaw

author

Piotr Kaliciński

• Department of Pediatric Surgery and Organ Transplantation, Children's Memorial Health Institute, Warsaw

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Identifiers

DOI

10.2478/v10035-009-0021-1