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Rare association of cranial, cardiac, and genital malformations.

Ambiguous Genitalia-Mental Retardation (AGR) Syndrome.


Deletion of the short arm of chromosome 11 with a variable phenotype caused in part by a defect in contiguous genes.

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.

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 proper size laryngeal mask airway and/or fiberoptic equipment may be required.

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.

WAGR Syndrome: An unusual association of Wilms tumor to ocular sign (aniridia) and mental retardation.

Gul D, Ogur G, Tunca Y, et al: Third case of WAGR syndrome with severe obesity and constitutional deletion of chromosome (11) (p12p14) [letter]. Am J Med Genet 107:70, 2002.  [PubMed: 11807873]
Schmickel RD: Chromosomal deletions and enzyme deficiencies. J Pediatr 108:244, 1986.  [PubMed: 3944710]

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