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[Opitz' trigonocephaly syndrome]
B Prager1, G K Hinkel, P Lorenz
1Institut für Klinische Genetik, Medizinischen Akademie Carl Gustav Carus, Dresden.
Kinderarztliche Praxis
|November 1, 1991
Insights
Opitz
Area of Science:
- Genetics and developmental biology, focusing on inherited human disorders.
Context:
- Opitz' Trigonocephaly Syndrome (C-syndrome) is a rare autosomal recessive disorder.
- Characterized by metopic suture synostosis, craniofacial anomalies, and intellectual disability.
Purpose:
- To report on three children diagnosed with Opitz' Trigonocephaly Syndrome.
- To highlight the typical dysmorphic features and genetic underpinnings of the syndrome.
Summary:
- Three pediatric cases with Opitz' Trigonocephaly Syndrome (C-syndrome) from two families are presented.
- The syndrome involves premature fusion of the metopic suture, distinctive facial features, and significant developmental delays.
Impact:
- Contributes to the understanding of Opitz' Trigonocephaly Syndrome's clinical presentation.
- Emphasizes the importance of recognizing characteristic dysmorphic stigmata for diagnosis.
- Suggests potential for genetic counseling and prenatal diagnosis in affected families.
Abstract:
The Opitz' Trigonocephaly Syndrome, also called C-syndrome is an important autosomal recessive inherited disorder with characteristic synostosis of metopic suture, craniofacial abnormalities and severe mental retardation. Some patients show chromosomal aberrations with the possibility of prenatal diagnosis. Are reported on three children from two families with typical dysmorphic stigmata of the syndrome.