Chromosomic disorder in which craniofacial,
genitourinary, and eye malformations are associated with Wilms tumor.
Brusa-Torricelli syndrome; Chromosome 11p Deletion Syndrome; 11p- Syndrome;
Chromosome 11p Monosomy; Deletion 11p Syndrome; Monosomy 11p; Partial
Monosomy 11p; Aniridia-Wilms Tumor syndrome.
First described by the two Italian physicians P. Brusa and C. Torricelli
Autosomal dominant; generally sporadic.
Patient presents with constitutional deletions at 11p13
and alteration of the WT1 gene (Wilms tumor).
Characteristic association of aniridia, nephroblastoma,
and mental retardation. Affects both sexes, but is more frequent in males.
Presents with significant phenotypic variability. Clinical
features can involve head and neck with microcephaly, cranial asymmetry,
brachycephaly, prominent forehead, long, narrow face, large fontanelles,
premature synostosis of metopic sutures, biparietal foramina, micrognathia,
high and narrow palate, prominent lower lip, and down-turned upper lip. The eyes
present with various abnormalities, including aniridia, glaucoma, corneal
opacity, optic atrophy, strabismus, cataracts, nystagmus, blepharoptosis,
and blepharophimosis; blindness is not uncommon. Ears and nose are often
malformed. Genitourinary tract malformations are constant and can be
associated with Wilms tumor, hypospadias, micropenis with anomalies of
urethra, cryptorchidism, gonadal dysgenesis, horseshoe or fused kidneys,
duplication of upper urinary tract, kidney aplasia, or hypoplasia. Various
hernias are frequent. Hemihypertrophy of the body, multiple exostoses,
kyphoscoliosis, clinodactyly, and abnormal dermatoglyphics have been observed.
Cardiomyopathy or ventricular septal defect can be present.
Evaluate anatomy in regards to tracheal intubation
(clinically, radiography) because of micrognathia; cardiac function (clinically,
echocardiography, radionuclide imaging, electrocardiogram); and renal function (ultrasound,
scintigraphy, laboratory investigations including creatinine, urea, and
Direct laryngoscopy can be difficult
because of micrognathia and may require adapted anesthetic management.
Perioperative fluid regimen should be adapted to renal function. Cautious
intraoperative positioning is needed because of skeletal deformation.
Central neuraxial anesthesia techniques are not contraindicated, but can be difficult to perform
kyphoscoliosis and exostosis. Pupillary signs for assessment of depth of anesthesia and
neurologic examination are not usable in these patients.
Avoid nephrotoxic drugs. Avoid apnea
until airway management is safe and complete. Consider interaction between
chemotherapeutics and anesthetic drugs. Prophylactic antibiotics in case of
cardiopathy and/or immunosuppression as indicated.
FischbocH BV, Traul KL, Lewis J, et al: WAGR syndrome: a clinical review of 54 cases.
Pediatrics 116:984, 2005.
Gul D, Ogur G, Tunca Y, et al: Third case of WAGR syndrome with severe
obesity and constitutional deletion of chromosome (11)(p12p14). Am J Med Genet
Yanagidate F, Dohi S, Iizawa A: Anaesthetic management for a patient with
WAGR syndrome. Anaesthesia