[Opitz' trigonocephaly syndrome].

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.