Trisomy 11q

At a glance

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.

Synonyms

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

Incidence

Very rare, limited descriptions of isolated Trisomy 11q.

Clinical aspects

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.

Precautions before anesthesia

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

Anesthetic considerations

Direct laryngoscopy and tracheal intubation can be difficult and may necessitate preservation of spontaneous ventilation until the trachea is intubated and lung ventilation is confirmed. The availability of a laryngeal mask airway and fibrescope is highly recommended. Careful intraoperative positioning is needed but can be difficult due to hip dislocation. Subclavian central venous access can be delicate because of clavicle malformations.

Pharmacological implications

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.

References