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Opitz C trigonocephaly syndrome and midline brain anomalies
G Zampino1, C Di Rocco, G Butera
1Istituto di Pediatria, Facoltà di Medicina A. Gemelli, Università Cattolica, Rome, Italy.
Insights
C syndrome is characterized by multiple congenital anomalies, including trigonocephaly and severe intellectual disability. Midline brain defects like Dandy-Walker malformation are confirmed as part of this rare genetic disorder.
Area of Science:
- Genetics
- Developmental Biology
- Pediatrics
Background:
- C syndrome, a rare genetic disorder, presents with a complex constellation of congenital anomalies.
- Understanding the full spectrum of C syndrome is crucial for accurate diagnosis and management.
Observation:
- A case report details a child with trigonocephaly, strabismus, and other craniofacial and skeletal abnormalities consistent with C syndrome.
- The patient exhibited significant midline brain malformations, including Dandy-Walker malformation, agenesis of the corpus callosum, and occipital meningocele.
Findings:
- The observed structural defects, particularly midline brain anomalies, are integral to C syndrome and not solely due to metopic suture premature closure.
- The findings support the hypothesis that C syndrome primarily involves a developmental defect affecting the embryonic midline field.
Implications:
- This case expands the understanding of C syndrome's phenotypic variability and its association with midline developmental defects.
- Further research into the genetic and developmental mechanisms underlying C syndrome is warranted for improved clinical outcomes.
Abstract:
We describe a child with trigonocephaly, strabismus, upslanting palpebral fissures, nasal bridge hypoplasia, hypertrophic alveolar ridges and large gingivo-labial frenula, short neck, hip "dysplasia," equinovarus deformities, cryptorchidism, atrial septal defect ostium secundum, and severe mental retardation, findings consistent with C syndrome. The patient also had a Dandy-Walker malformation, complete callosal agenesis, and occipital meningocele. These structural defects are independent of the premature closure of the metopic suture, and confirm that midline brain anomalies are part of C syndrome. The hypothesis that the basic developmental defect in this syndrome primarily affects the midline field is supported by the concomitance of other anomalies, such as conotruncal heart defects, omphalocele, and genital anomalies.