The most consistent features of this syndrome are
microcephaly, hypoplastic corpus callosum, aqueductal stenosis with enlarged
ventricles, severe mental retardation, large ears with preauricular skin
tags, profound growth retardation, camptodactyly, and recurrent
bronchopneumonias. Electroencephalographs reportedly are normal; however,
hypertonicity and hyperreflexia of all limbs have been described as a common
symptom. Mild micrognathia and high arched palate were additional signs.
Death in the three patients initially described occurred between age 10 and
32 months, most likely as a consequence of bronchopneumonia. One patient who
was alive at age 7 years suffered from recurrent pneumonias and persistent
esophagitis secondary to gastroesophageal reflux.