1996] comment on similarities between the patients described in Gripp et al. [1996] and their patient. They conclude that these patients share the same syndrome, as do those in three other previously described cases.
Fine and Lubinsky [1983] described a male with congenital hydrocephalus due to aqueductal stenosis, absence of the corpus callosum, congenital body asymmetry, severe growth failure, and profound developmental delay. Although he shared some findings with our patients (unilateral congenital cataract, small mouth, and inguinal hernia), his overall phenotype and presentation bear little resemblance to those of our patients.
Preus et al. [1984] reported on a male with submucous cleft palate, small posteriorly-rotated ears with a thickened helix and a horizontal top, a small mouth, and unilateral cryptorchidism. His nasal root was described as low and flat, but does not appear low on the lateral photograph (see also Editor's Comment). The nasal tip was wide. His face did not appear flat on lateral view. Sensorineural hearing loss was mentioned in the headline, but not further commented on. The patient had multiple admissions for infections and failure to thrive. Developmental delay was noted, and he had ''startle seizures with myoclonic movements.'' Similarities with our patients include small mouth, inguinal hernia, growth failure, developmental delay, questionable seizures, and possible sensorineural hearing loss. In light of the submucous cleft, ears with thick helix and horizontal top, wide nasal tip, recurrent infections, and growth failure, it would be interesting to study this patient for a microdeletion 22q11.2 (velocardio-facial syndrome; Di George complex).
Suthers et al. [1993] described a male with brachycephaly, deafness, mild cataracts, mental retardation, and hydrocephalus requiring VP-shunt placement. The