Carnevale-Krajewska-Fischetto Syndrome

At a glance

A genetic disorder with facial dysmorphism, hip dislocation, and diminished abdominal musculature.

Synonyms

Carnevale-Krajewska-Fischetto-Greco-Bonvino Syndrome; Ptosis Strabismus Diastasis Syndrome.

Incidence

Extremely rare.

Genetic inheritance

The two brothers described had consanguineous parents; hence autosomal recessive inheritance has been suggested. The karyotype was normal in both patients.

Diagnosis

Based on the clinical findings.

Clinical aspects

Both patients were born prematurely (at 28 and 32 weeks of gestation, respectively and the boy born at 28 weeks suffered from severe hypoxia). Facial features include depressed nasal bridge, hypertelorism, blepharophimosis, blepharoptosis, hypertelorism, downslanting of the palpebral fissures, and paresis of ocular muscles with strabismus. The ears are low-set and dysplastic with a folded helix, and the external auditory canals are atretic or absent. Vision and hearing may be impaired. The palate is high-arched and narrow, the philtrum smooth, and the corners of the mouth are downturned. Aplasia or hypoplasia of the abdominal muscles results in diastasis recti. Pronation and supination are limited, but flexion and extension in the elbow are normal. Hip dysplasia leads to dislocation. Short stature, mild mental retardation (one patient had slight dilatation of the lateral ventricles and a widened interhemispheric fissure secondary to mild atrophy) were present in both patients, and one had cryptorchidism.

Precautions before anesthesia

Overall the facial features appear mild, but nevertheless check for signs of difficult airway management. Developmental delay and impaired hearing and vision may cause agitation and stress in the perioperative period, thus anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial.

Anesthetic considerations

Anesthesia in these patients has not been described. The presence of a narrow, arched palate may make tracheal intubation difficult. If difficult airway management is expected, maintenance of spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device, fiberoptic bronchoscope) and adherence to an established difficult airway algorithm is advised. A surgeon familiar with surgical airway management and the necessary equipment should easily be available in the operating room. Alternatively, an awake fiberoptic intubation should be considered. Careful intraoperative handling and positioning is required to avoid hip dislocations. Abdominal muscle defects may lead to postoperative ventilation problems. Postoperative mechanical ventilation may therefore be required.

Pharmacological implications

None specific to this syndrome.

Reference