Rare association of aniridia, genital malformations, and mental retardation. Subgroup of WAGR Syndrome.
Ambiguous Genitalia-Mental Retardation (AGR) Syndrome.
Contiguous gene deletion in the 11p13-14 region of the short arm with a variable phenotype. Aniridia due to PAX6 haploinsufficiency.
Evocated on the clinical association.
Can include multiple anomalies concerning head with cranial asymmetry, microcephaly, brachycephaly, prominent forehead, long narrow face, large fontanels, premature synostosis of metopic sutures, and biparietal foramina, face (prominent bridge, short philtrum, and epicanthal folds), and eyes (aniridia, glaucoma, corneal opacity, optic atrophy, strabismus, cataracts, nystagmus, blepharoptosis, and blepharophimosis). High and narrow palate, prominent lower and down-turned upper lip can occur. Urogenital system can present with hypospadias, cryptorchidism, micropenis, fibrous ovaries, gonadal dysgenesis, horseshoe or fused kidneys, duplication of upper urinary tract, kidney aplasia or hypoplasia, and anomalies of urethra. Cardiomyopathy or cardiac defects, vertebral anomalies, and neurological anomalies can also occur. Hemihypertrophia is possible.
Precautions before anesthesia
Evaluate cardiac function in case of cardiomyopathy (chest radiography, echocardiography, ECG); airway (clinical, radiographs); and renal status (echography, creatinine, urea, electrolytes). Look at vertebral anomalies that can make perimedullar anesthesia contraindicated.
Direct laryngoscopy and tracheal intubation can be difficult because of facial malformation. The availability of laryngeal mask airways and/or fiberoptic equipment is essential.
Avoid parasympatholytic drugs in cases of glaucoma. Consider renal function if necessary to manage intraoperative fluid regimen and the use of nephrotoxic drugs. Cardiac prophylactic antibiotics should be used in cases of cardiac defects.
Other condition to be considered
☞WAGR Syndrome: Microdeletion syndrome where the acronym WAGR stands for Wilms tumor, Aniridia, Genital malformations, and mental Retardation.
et al: Third case of WAGR syndrome with severe obesity and constitutional deletion of chromosome (11) (p12p14) [letter]. Am J Med Genet
RD: Chromosomal deletions and enzyme deficiencies. J Pediatr
M: LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects. J Biol Chem