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
First reported in two female siblings by J.P. Fryns in
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
Veldman A, Schlosser R, Allendorf A, et al: Bilateral congenital
diaphragmatic hernia: Differentiation between Pallister-Killian and Fryns
syndromes [letter]. Am J Med Genet
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