Very rare syndrome characterized by craniofacial
malformations associated with osseous signs, mental retardation, and
Craniofacial and Osseous Defects with Mental Retardation.
Unknown, but extremely rare.
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
Grix A, Blankenship W, Peterson R, et al: A new familial syndrome with
craniofacial abnormalities, osseous defects, and mental retardation. Birth Defects Orig Artic Ser