Skip to Main Content

We have a new app!

Take the Access library with you wherever you go—easy access to books, videos, images, podcasts, personalized features, and more.

Download the Access App here: iOS and Android

Very rare syndrome characterized by craniofacial malformations associated with osseous signs, mental retardation, and seizures.

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 antiseizure medications.

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 11:107, 1975.  [PubMed: 1218201]

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.