A very rare syndrome characterized by craniofacial malformations associated with osseous signs, mental retardation, and seizures.
Craniofacial and Osseous Defects with Mental Retardation.
The prevalence has been established without clear evidence at 1:1,000,000 persons worldwide. However, it is possibly lower because it is believed underdiagnosed. The true incidence remains unknown. The age of onset of the disease is during the neonatal and infancy period.
It is believed to be inherited as an autosomal recessive inheritance.
Features involve head (microcephaly, puffy eyelids [defect of lacrimal system], thick eyebrows, high nasal bridge, long bulbous nose, long philtrum, micrognathia, retrognathia, cleft tongue, cleft palate, thickened gingivae), abdomen (inguinal hernia, ectopic testes), and skeleton (bifid thumbs and toes, overlapping fingers, abnormal soles, sacrococcyx and rib anomalies). Dry skin, osteosclerosis, hypertonia and spasticity, mental retardation, seizures, and short stature are associated. Ventricular septal defects have been observed.
Evaluate cardiac function (clinical, echography, ECG). Anesthetic technique should be adapted in case of ventricular septal defect. Facial malformations may require tracheal intubation evaluation and adequate anesthetic management (fiberoptic intubation if necessary). Neurologic function and history of seizures and their control should be assessed.
Subacute bacterial endocarditis prophylaxis is required in the presence of a ventricular septal defect. Avoid muscle relaxants until the airway has been secured. Consider interactions of anesthetic drugs with chronic antiseizure medications.
et al: A new familial syndrome with craniofacial abnormalities, osseous defects, and mental retardation. Birth Defects Orig Artic Ser