[MIM 217 980]

Rare. Probably autosomal recessive transmission.

Association of:

-        agenesis of the corpus callosum, sometimes Dandy-Walker malformation with hydrocephalus

-        facial dysmorphism with Pierre Robin sequence: telecanthus, narrow palpebral fissures, poorly fringed ears, excess skin at  the level of the neck

-        anomalies of the larynx: hypoplasia

-        heart disease

-        hypotonia

-        microcephaly and profound mental retardation

-        sometimes vertebral malformations, supernumerary ribs, malformation of the clavicles.

Frequent deaths in the neonatal period, especially among boys.

Anesthetic implications:

risk of difficult intubation, echocardiography, hydrocephalus, mental retardation.

References : 

Updated: September 2018