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At a Glance

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This disorder is characterized by a classic facies (malar hypoplasia, prominent antegonial notch of the mandible), horseshoe kidney, congenital heart defects, muscular hypoplasia, mental retardation, and delayed physical development.

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Synonyms

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Faciocardiorenal Syndrome.

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Incidence

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Unknown. Few scientific papers published in the medical literature since 1977.

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Genetic Inheritance

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Autosomal recessive.

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Pathophysiology

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Unknown.

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Diagnosis

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Based on the association of mental retardation with a characteristic facies and the presence of horseshoe kidney confirmed by imaging studies.

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Clinical Aspects

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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 defects (ASDs), 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.

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Precautions before Anesthesia

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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.

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Anesthetic Considerations

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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, weak cough, and frequent respiratory infections.

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Pharmacological Implications

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Subacute bacterial endocarditis prophylaxis may be required. Maintain spontaneous respiration. Avoid neuromuscular blockers before the airway has been secured. If renal function is decreased, the dose and choice of drugs and amounts of fluids should be adjusted accordingly.

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Other Condition to Be Considered

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Opitz-Frias Syndrome (G Syndrome): Genetic disorder characterized by craniofacial anomalies, ocular hypertelorism, cleft lip/palate, epicanthal folds, and a wide, flat nasal bridge. Affected males present cryptorchidism, bifid scrotum, and/or hypospadias. The most significant anomalies are the presence of ...

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