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Schaap C, Schrander-Stumpel CT, Fryns JP. Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly. Genet Couns. 1992;3(4):209-15
Schaap, C., Schrander-Stumpel, C. T., & Fryns, J. P. (1992). Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly. Genetic counseling (Geneva, Switzerland), 3(4), 209-15.
Schaap, C, et al. "Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly." Genetic counseling (Geneva, Switzerland) vol. 3,4 (1992): 209-15.
Schaap C, Schrander-Stumpel CT, Fryns JP. Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly. Genet Couns. 1992;3(4):209-15. PMID: 1472356.
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Genet Couns. 1992;3(4):209-15.

Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly.

Genetic counseling (Geneva, Switzerland)

C Schaap, C T Schrander-Stumpel, J P Fryns

Affiliations

  1. Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.

PMID: 1472356

Abstract

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.

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