Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly
Schaap, C.; Schrander-Stumpel, C.T.; Fryns, J.P.
Genetic Counseling 3(4): 209-215
1992
ISSN/ISBN: 1015-8146 PMID: 1472356 Document Number: 392594
We report on two patients with a complicated form of trigonocephaly. The first patient has the Opitz-"C"-trigonocephaly syndrome. The second patient had initially a delayed motor development, but finally attained normal intelligence. A review of 22 patients with Opitz-C syndrome from the literature is presented. Most of the typical facial dysmorphism can be regarded as part of a trigonocephaly "sequence" rather than presenting characteristic features of a syndrome. More specific are the intra-oral anomalies, abnormally modelled ears, cardiac anomalies and neonatal hypotonia. All surviving patients are severely retarded. Since almost all patients are sporadic cases we suggest that the "C"-syndrome is a cytogenetically yet undetectable microdeletion syndrome.