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Teebi hypertelorism syndrome: additional cases
Ligiane Alves Machado-Paula1, Maria Leine Guion-Almeida
1Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil.
American Journal of Medical Genetics. Part A
|February 5, 2003
Summary
Two Brazilian boys presented with craniofacial and digital anomalies similar to Teebi hypertelorism syndrome. Additional features included cleft lip/palate and abnormal scapulae, expanding the known phenotype.
Area of Science:
- Genetics
- Pediatrics
- Dysmorphology
Background:
- Teebi hypertelorism syndrome is a rare genetic disorder characterized by distinctive facial features.
- Understanding the full spectrum of this syndrome is crucial for accurate diagnosis and management.
Observation:
- Two unrelated Brazilian boys exhibited craniofacial and digital anomalies.
- Clinical presentation included hypertelorism, cleft lip and palate, macrouvula, atypical chin, and scapular abnormalities.
Findings:
- The observed anomalies share similarities with previously described cases of Teebi hypertelorism syndrome.
- The combination of features in these patients may represent an expanded or variant phenotype.
Implications:
- This report expands the phenotypic description of Teebi hypertelorism syndrome.
- Further research is needed to elucidate the genetic basis and variability of this condition.