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At a glance

This medical condition is characterized by a set of classic facial, renal, and cardiac features including malar hypoplasia, prominent antegonial notch of the mandible, horseshoe kidney, and congenital heart defects, suspected to be due to endocardial fibroelastosis. Often associated to the clinical presentation include muscular hypoplasia, mental retardation, and delayed physical development.

Synonyms

Facio-Cardio-Renal Syndrome; FRCS.

Incidence

There are only few reports and scientific papers published in the medical literature since 1977.

Genetic inheritance

Although there is no clear evidence about its mode of inheritance, an autosomal recessive entity is highly suspected.

Pathophysiology

Unknown. The presence of an endocardial fibroelastosis has been established.

Diagnosis

Based on the association of mental retardation, characteristic facies (arched eyebrows, broad nasal root, long philtrum, and microretrognathia), the presence of horseshoe kidney confirmed by imaging studies and endocardial fibroelastosis (congenital heart defects such as tricuspid valve defect) identified by cardiac echocardiography establishes the diagnosis.

Clinical aspects

Patients present with characteristic facial features consisting of mild plagiocephaly, relatively stiff, prominent and low-set ears, malar hypoplasia, broad nasal bridge and upturned nares, hypoplastic nasal alae, a poorly developed philtrum with a vermillion border, microstomia, cleft palate, and hypodontia. Microtia has been described. Other major manifestations are the presence of a horseshoe kidney, severe mental retardation, microsomia, and congenital heart defects such as conduction anomalies, atrial septal defect (ASD), tricuspid valve prolapse, enlarged left ventricle, and endocardial fibroelastosis. The nipples are hypoplastic, the testes undescended, and the dermatoglyphics abnormal. The musculature is poorly developed, with a higher risk of pulmonary infection because of ineffective cough. Isolated growth hormone deficiency with good response to treatment has been reported in one patient.

Precautions before anesthesia

Check the airway anatomy for difficult airway management. If a heart defect is suspected, obtain an echocardiogram preoperatively. Also obtain baseline renal function tests (creatinine, urea). Mental retardation may limit patient compliance. Sedative and/or anxiolytic premedication and the presence of the primary caregiver during induction of anesthesia may be helpful.

Anesthetic considerations

Direct laryngoscopy and tracheal intubation may be difficult in the presence of a microstomia with restricted mouth opening. In a 2-year-old patient, the mouth was barely big enough to allow the insertion of an index finger. Spontaneous ventilation should be maintained until the airway has been secured. The electrocardiogram should be constantly monitored for evidence of abnormal cardiac conduction. Muscle hypoplasia may be associated with prolonged muscle paralysis. Prolonged postoperative mechanical ventilation may be required due to poorly developed muscles (muscular hypotonia must be considered and alerts to the use of depolarizing muscle relaxants), weak cough, and frequent respiratory infections.

Pharmacological implications

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