Trisomy 11q

Duplication of the long arm of chromosome 11 provides multiple malformations of which variability is related to the size of duplication. Clinically characterized at birth or later by the association of delayed growth and mental development, craniofacial anomalies, musculoskeletal abnormalities, imperforate anus, cryptorchidism, and congenital heart defects.

11q+ Syndrome; 11q Duplication Syndrome; Chromosome 11q Trisomy Duplication.

Malformations can concern head (microcephaly, anencephaly, craniorachischisis, and microretrognathia; dysplastic ears and preauricular tags; nystagmus, strabismus, hypertelorism and down-slanting palpebral fissures; short, flat, or broad nose, short septum, long philtrum and epicanthal folds; highly arched palate, cleft palate, cleft lip, macroglossia and retracted lower lip; short neck), abdomen and pelvis (abdominal muscle defects, exomphalos, inguinal hernia, imperforate anus, hypoplasia of gallbladder, absent kidneys, bicornis uterus, micropenis, cryptorchidism, and hypoplastic scrotum), nervous system (neonatal hypertonia and postnatal hypotonia, seizures, arhinencephaly, agenesis of corpus callosum, and hypoplasia of cerebellar vermis), and skeleton (bipartite clavicles, dysplastic and dislocated hips, radioulnar synostosis, clubfoot, and absent thumbs). Congenital heart defects can include ventricular septal defect and abnormal lung lobation. Some patients exhibit symptoms of Cri-Du-Chat Syndrome.

Evaluate cardiac function (clinical, echocardiography, ECG), renal function (echography, CT, urea, creatinine, electrolytes), and neurological function (clinical, CT scan, MRI, EEG).

Direct laryngoscopy and tracheal intubation can be difficult because of malformations and may necessitate to preserve spontaneous ventilation until the trachea is intubated and lung ventilation confirmed. The use of fiberoptic technique, or retrograde approach should be considered. The availability of a laryngeal mask airway is highly recommended. Careful intraoperative positioning is needed but can be difficult because of hip dislocation. Subclavian central venous access can be delicate because of clavicle malformations.

Prophylactic antibiotics should be used in case of cardiac defect as indicated. Avoid nephrotoxic drugs in case of renal failure. Consider interaction between anesthetic drugs and epileptic medications.