Collins-Dennis-Clarke-Pope Syndrome

At a glance

A familial disorder characterized by hip dislocation, flat facial aspect, and congenital heart defect.

Synonym

Congenital Dislocation of the Hip with Hyperextensibility of Fingers and Facial Dysmorphism.

Incidence

Only three cases from one family have been described.

Genetic inheritance

Most likely autosomal dominant. The mother was tall (90th percentile) in the original report and the height of the father was below the 3rd percentile.

Diagnosis

Based on the clinical findings and family history.

Clinical aspects

All three girls are mentally normal. Craniofacial anomalies include a flat face, periorbital puffiness, ear anomalies, epicanthic folds, hypertelorism, malar hypoplasia, broad and flat nose with anteverted nares, high-arched, narrow palate, and small, carp-shaped mouth. Skeletal anomalies may include proportionate short stature (all three sisters on the 3rd percentile for height), hyperextensible joints, congenital hip and/or knee dislocations, and clinodactyly. All three sisters had an atrial septal defect, but tricuspid valve prolapse and patent ductus arteriosus were inconstant. Inguinal hernia and urinary tract anomalies occurred in one patient. All three girls had poor weight gain despite feeding well. Results of studies on collagen from skin and ligaments were normal.

Precautions before anesthesia

Overall, judging from the pictures in the original report, the facial features appear rather mild, thus airway management is not a priori expected to be difficult. Obtain or review an echocardiogram if any suspicion for cardiac defects (murmur and/or signs of cardiac failure) occurs. If vesicoureteral reflux is severe and bilateral (not the case in any of the three patients), kidney function should be checked (serum electrolytes, creatinine, urea).

Anesthetic considerations

Anesthesia for this disorder has not been described. Regional anesthesia is not contraindicated, but positioning might be challenging due to the risk of dislocations. Careful perioperative handling and positioning is mandatory to prevent dislocations of the large joints and pressure sores and/or nerve injury. Cardiac anomalies may require a specific and tailored anesthetic approach. Meticulous attention should be paid to avoid air bubbles in infusion-lines in patients with right-to-left shunts. Antibiotic prophylaxis for subacute bacterial endocarditis may be required.

Pharmacological implications

Drugs with predominantly renal elimination should be avoided in the presence of renal insufficiency or their dose adjusted accordingly. Potentially nephrotoxic drugs and nonsteroidal anti-inflammatory drugs should be avoided.

Reference