Autosomal recessive transmission, often lethal (14% surviving the neonatal period). Association of a congenital diaphragmatic hernia, facial anomalies (cleft lip palate, coarse features, opaque corneas), hypoplasia or aplasia of the nails. Digestive malformations (duodenal atresia, malrotation), urogenital or brain (agenesis of the corpus callosum) can be associated. Clinical picture similar to the Pallister-Killian syndrome (which is sporadic).

Anesthetic implications: 

According to the malformations.

References:

Updated: April 2019