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.
Unknown. Few scientific papers published in the
medical literature since 1977.
Based on the association of mental retardation with a
characteristic facies and the presence of horseshoe kidney confirmed by
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.
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
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.
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.
Other Condition to Be Considered
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 ...