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Eur J Med Genet. 2009 Nov-Dec;52(6):421-5. doi: 10.1016/j.ejmg.2009.09.008. Epub 2009 Oct 1.

A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors.

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IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo and CSS-Mendel Institute, Viale Regina Margherita, 261, 00198 Rome, Italy.


Fryns syndrome (FS) is a rare early lethal autosomal recessive disorder. The diagnosis is clinical since the underlying molecular defect is currently unknown. We report on a 6-year-old male child displaying an association of congenital diaphragmatic hernia (CDH), lung hypoplasia, corneal clouding and coarse face in the absence of distal digital/nail hypoplasia. Based on the recently published diagnostic guidelines, our patient fits the narrow definition of FS. Only a minority of FS patients surviving the neonatal period have been reported, thus limiting the recognition of the infantile phenotype. We compared the features observed in our proband with those of 10 published survivors. Neurological impairment ranging from mild to severe was present in all patients, while seizures manifested in one third of them, often in association with central nervous system malformations. Other characteristic features included central-paracentral corneal clouding, coarsening of the facial traits, gastroesophageal reflux, Hirschsprung disease, intestinal malrotation, hydronephrosis and vescico-ureteral reflux. These manifestations are representative of the natural history of this condition and should also be searched for in FS survivors.

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