NEUROECTODERMAL (CHIME) SYNDROME - AN ADDITIONAL CASE WITH LONG-TERM FOLLOW-UP OF ALL REPORTED CASES

A new neuroectodermal syndrome (designated CHIME syndrome) was describ ed in 1983 with a total of four patients reported, it is presumed to b e an autosomal recessive disorder because of recurrence in sibs. The m ain features include ocular colobomas, congenital heart disease, early onset migratory ichthyosiform dermatosis, mental retardation, conduct ive hearing loss, seizures, and typical facial features. We report a f ifth child with the condition, confirming the unique nature of the con dition. Long term follow up information on this patient, as well as th e previously described cases, provides information regarding the outco me for these patients, which includes general good health, severe ment al retardation, seizures that worsen after puberty, conductive hearing loss, and chronic migratory ichthyosiform skin rash without scarring.