Carnevale-Krajewska-Fischetto Syndrome

Genetic disorder with facial features, hip dislocation, and diminished abdominal musculature.

Ptosis Strabismus Diastasis.

Extremely rare. The two brothers described had consanguineous parents, hence autosomal recesssive inheritance has been suggested.

Diagnosis is based on the clinical findings. Facial features include depressed nasal bridge, hypertelorism, blepharophimosis, blepharoptosis, and paresis of ocular muscles with strabismus. The ears are low set with a folded helix, and the external auditory canal may be atretic or absent. Vision and hearing may be impaired. The palate may be arched and narrow. Hip dysplasia leads to dislocation. Aplasia or hypoplasia of the abdominal muscles results in diastasis. Pronation and supination are limited, but flexion and extension in the elbow are normal. Short stature, mild mental retardation, and cryptorchidism present in both patients.

Anesthesia in these patients has not been described. The presence of a narrow, arched palate may make tracheal intubation difficult. Abdominal muscle defects may lead to postoperative ventilation problems. Postoperative mechanical ventilation may therefore be required. Patient cooperation may be limited secondary to mental retardation and impaired hearing and vision. Sedative and anxiolytic premedication and the presence of the primary caregiver during induction of anesthesia may be helpful.