| dbo:abstract |
Das Fryns-Syndrom ist ein seltenes angeborenes Dysmorphie-Syndrom mit einer Kombination von Trübung der Hornhaut, Hypoplasie der unteren Extremitäten und Zwerchfelldefekt. Das Syndrom ist nach dem Erstbeschreiber von 1979 benannt, dem belgischen Humangenetiker Jean-Pierre Fryns. Das Fryns-Syndrom ist nicht mit dem Fryns-Hofkens-Fabry-Syndrom zu verwechseln. (de) Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. Fryns (1987) reviewed the syndrome. (en) Le syndrome de Fryns est une maladie associant une hernie diaphragmatique, un visage particulier et des anomalies des doigts. La plupart des enfants décèdent à la naissance, en raison de la hernie diaphragmatique.Ce syndrome serait responsable de 10 % des hernies diaphragmatiques congénitales et donc la cause syndromique la plus fréquente des hernies diaphragmatiques congénitales. Les critères diagnostics de ce syndrome sont les suivants : * histoire clinique compatible avec une maladie de transmission récessive ; * hernie diaphragmatique ; * faciès caractéristique ; * hypoplasie des doigts ; * hypoplasie pulmonaire ; * une des anomalies suivantes : hydramnios, microphtalmie, malformations cérébrales, fente labiale, cardiopathie congénitale, anomalie rénale ou intestinale. (fr) Zespół Frynsa (łac. syndroma Fryns ang. Fryns syndrome, FRNS) – genetycznie uwarunkowany zespół wad wrodzonych charakteryzujący się dysmorfią twarzy, wrodzoną przepukliną przeponową, hipoplazją płuc i kończyn oraz niepełnosprawnością intelektualną. (pl) |
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Fryns syndrome (en) |
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| dbp:caption |
Fryns syndrome is inherited in an autoosomal recessive manner. (en) |
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Fryns syndrome (en) |
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Diaphragmatic hernia-abnormal face-distal limb anomalies syndrome (en) |
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| rdfs:comment |
Das Fryns-Syndrom ist ein seltenes angeborenes Dysmorphie-Syndrom mit einer Kombination von Trübung der Hornhaut, Hypoplasie der unteren Extremitäten und Zwerchfelldefekt. Das Syndrom ist nach dem Erstbeschreiber von 1979 benannt, dem belgischen Humangenetiker Jean-Pierre Fryns. Das Fryns-Syndrom ist nicht mit dem Fryns-Hofkens-Fabry-Syndrom zu verwechseln. (de) Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. Fryns (1987) reviewed the syndrome. (en) Zespół Frynsa (łac. syndroma Fryns ang. Fryns syndrome, FRNS) – genetycznie uwarunkowany zespół wad wrodzonych charakteryzujący się dysmorfią twarzy, wrodzoną przepukliną przeponową, hipoplazją płuc i kończyn oraz niepełnosprawnością intelektualną. (pl) Le syndrome de Fryns est une maladie associant une hernie diaphragmatique, un visage particulier et des anomalies des doigts. La plupart des enfants décèdent à la naissance, en raison de la hernie diaphragmatique.Ce syndrome serait responsable de 10 % des hernies diaphragmatiques congénitales et donc la cause syndromique la plus fréquente des hernies diaphragmatiques congénitales. Les critères diagnostics de ce syndrome sont les suivants : (fr) |
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Fryns-Syndrom (de) Fryns syndrome (en) Syndrome de Fryns (fr) Zespół Frynsa (pl) |
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