Rare association of cranial, cardiac, and genital
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
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
Schmickel RD: Chromosomal deletions and enzyme deficiencies. J Pediatr