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"C" trigonocephaly syndrome with diaphragmnatic hernia
M C Addor1, D Stefanutti, F Farron
1Division of Medical Genetics, CHUV, Lausanne, Switzerland.
Insights
This study details C-trigonocephaly syndrome, a rare condition associated with diaphragmatic hernia and severe intellectual disability. The findings highlight key clinical features and contribute to understanding this complex genetic disorder.
Area of Science:
- Medical Genetics
- Pediatrics
- Dysmorphology
Background:
- C-trigonocephaly syndrome is a rare genetic disorder characterized by a triangular skull shape.
- It is often associated with significant developmental abnormalities and congenital anomalies.
Observation:
- A 6-year-old girl with C-trigonocephaly syndrome presented with severe mental retardation and diaphragmatic hernia.
- Characteristic features included trigonocephaly, dysmorphic facial features (particularly intra-oral anomalies), low-set dysplastic ears, cardiac anomaly, and neonatal hypotonia.
Findings:
- Three cases of C-trigonocephaly are presented, including one with a fatal diaphragmatic hernia and another without.
- A review of 26 previously reported cases is included, expanding the known spectrum of this syndrome.
- The association between C-trigonocephaly syndrome and diaphragmatic hernia is further supported.
Implications:
- This report enhances the understanding of C-trigonocephaly syndrome's clinical presentation and genetic associations.
- It underscores the importance of recognizing and diagnosing C-trigonocephaly syndrome, especially when accompanied by diaphragmatic hernia.
- Further research into the genetic underpinnings and management strategies for C-trigonocephaly syndrome is warranted.
Abstract:
We report on a 6-year-old girl with C-trigonocephaly syndrome and diaphragmatic hernia. She is severely mentally retarded and shows the characteristic findings of this syndrome, including trigonocephaly, unusual facial features, especially intra-oral anomalies, low set and dysplastic ears, cardiac anomaly and neonatal hypotonia. Following our presentation at the 5th European meeting of dysmorphology in Strasbourg, P. Meinecke brought to our attention a case of C-trigonocephaly who died in the neonatal period from complications of a diaphragmatic hernia. Another case of C-trigonocephaly without diaphragmatic hernia was communicated to us by D. Lacombe. We report these three observations and present a review of 26 alleged cases.