Turner Syndrome

Difficult airway - A webbed neck with a low hairline at the base of the neck, a narrow high-arched palate, and short stature combine to restrict extension and narrow the view. Have a video laryngoscope in the room from the start, and tube and blade sizes below what the patient's age would predict, since short stature is the rule.

Airway assessment - Mallampati, mouth opening, thyromental distance, and neck range of motion at the bedside, plus any prior anesthetic record documenting a laryngoscopy grade. A previously documented easy intubation is worth more than any of the bedside tests.

Bicuspid valve and coarctation - The characteristic lesions are aortic valve abnormalities, principally a bicuspid aortic valve, along with an elongated transverse aortic arch and coarctation of the aorta. Get the echocardiogram in infants and children and the aortic MRI in older girls and women — the arch is where echo alone is weakest, and the MRI is part of routine Turner surveillance so the study usually exists.

Aortic dissection risk - Aortic dissection is a leading cause of death in Turner syndrome and aortic aneurysm is the largest single cause of congenital cardiovascular mortality. Treat blood pressure swings as the primary threat: blunt the pressor response to laryngoscopy, avoid hypertensive surges on emergence, and keep extubation smooth rather than fast.

Positioning and vascular access - Cubitus valgus and Madelung deformity of the forearm and wrist mean elbows and wrists do not rest in neutral; pad and position to the patient's own range and do not force an arm board. Congenital lymphedema of the hands and feet makes peripheral access and cuff placement harder — reach for ultrasound guidance early rather than after four failed sticks.

Renal anomalies - Collecting-system malformations, positional anomalies, and horseshoe kidney are all common. Look at the renal ultrasound obtained at diagnosis and the serum creatinine and urinalysis screened annually from age 10 before dosing renally cleared drugs or reaching for an NSAID.

Drug dosing - Dose to actual weight, not to age — short stature makes age-based estimates consistently wrong. Autoimmune disease is frequent enough that TSH is screened from age 4 and fasting glucose and HbA1c from age 10, so check the thyroid and glucose numbers already on file rather than assuming a euthyroid, euglycemic patient.

Hearing loss - Both conductive loss from recurrent otitis media and sensorineural loss from a defect in the outer cochlear hair cells are common. Establish how the patient hears you before induction and use the same channel at emergence — a patient who cannot hear the wake-up instructions can look exactly like emergence delirium.

Aspiration and respiratory risk - Pneumonia is a documented contributor to the excess mortality in Turner syndrome, and obesity and diabetes are both more common than in the general population. Extubate awake, with the airway equipment you used still in the room, and keep the head up in recovery.

Turner syndrome is the most common sex chromosomal abnormality in females, occurring in about 1 in 2,000 to 1 in 2,500 live female births when one X chromosome is partially or completely missing. Roughly half of patients have monosomy X (45,XO) and half carry a mosaic chromosomal component. What matters at the board is that the same defect produces a left-sided arteriopathy: aortic valve abnormalities (principally a bicuspid valve), an elongated transverse aortic arch, and coarctation of the aorta are all overrepresented, and aortic dissection is a leading contributor to death. Overall mortality runs about three times that of the general population, with aortic aneurysm the largest single cause among the congenital cardiovascular lesions. The dysmorphic features that travel with it — webbed neck, low posterior hairline, narrow high-arched palate, short stature — sit directly in the airway path, and renal collecting-system and positional anomalies are common.