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Very rare polymalformative syndrome characterized by diaphragmatic hernia and unusual facies. The proportion of patients who survive the neonatal period represents only 14% of reported cases. The majority are stillborn or die in early neonatal period.

Diaphragmatic Hernia, Abnormal Face, and Distal Limb Anomalies; FRNS.

First reported in two female siblings by J.P. Fryns in 1979.

Autosomal recessive.

The features are extremely numerous but dominated by diaphragmatic hernia. Patients have characteristic facies (thin lips, macrostomia or microstoma, microretrognathia, short neck, coarse face, broad forehead, anteverted nares, broad nasal root, down-slanted fissures, decreased lashes and eyebrows, microphthalmia, narrow or cleft palate, cleft lip). Other features involve viscera (hypoplastic lungs, polycystic kidneys, polysplenia, malrotation or duplication of the gut, esophageal atresia, Meckel diverticulum, duodenal atresia), heart (cardiac septal defect, tetralogy of Fallot, patent ductus arteriosus), limb (brachydactyly, small fingernails, clinodactyly of fifth finger, syndactyly of toes), and central nervous system (CNS) (hydrocephaly, Dandy-Walker anomaly, cranial nerve anomalies, holoprosencephaly, corpus callosum agenesis). Absent or abnormally placed nipples, excess nuchal skin, tracheoesophageal fistula, and uterine anomalies have been described.

High rate of anesthetic implications. Main risks concern direct laryngoscopy and tracheal intubation, pulmonary aspiration, respiratory distress, and cardiac and renal function. Full preoperative assessment is needed and should include chest radiographs, renal and cardiac echography, CT, and laboratory analysis. Anesthetic management may conciliate imperative requirement of the associate defects. Postoperative stay in an intensive care unit with mechanical ventilatory support may be anticipated.

Fryns JP, Moerman F, Goddeeris P, et al: A new lethal syndrome with cloudy corneae, diaphragmatic defects, and distal limb deformities. Hum Genet 50:65, 1979.  [PubMed: 381161]
Veldman A, Schlosser R, Allendorf A, et al: Bilateral congenital diaphragmatic hernia: Differentiation between Pallister-Killian and Fryns syndromes [letter]. Am J Med Genet 111:86, 2002.  [PubMed: 12124742]
Ramsing M, Gillesen-Kaesbach G, Holzgreve W, et al: Variability in the phenotypic expression of Fryns Syndrome: a report of two sibships. Am J Med Genet 95:415, 2000.  [PubMed: 11146459]

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