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The Antley-Bixler syndrome: two new cases
H S Hosalkar1, H S Shah, P S Gujar
1Division of Paediatric Orthopaedics, The Valley Children's Hospital, UCSF, California, USA. hosalkarish@hotmail.com
Journal of Postgraduate Medicine
|February 8, 2002
Summary
Antley-Bixler syndrome, a rare congenital anomaly, presents with craniosynostosis and limb abnormalities. This report details two new cases, aiding in understanding this severe condition.
Area of Science:
- Medical Genetics
- Pediatric Congenital Anomalies
Background:
- Antley-Bixler syndrome is a rare, severe multiple congenital anomaly.
- It is characterized by craniosynostosis, radiohumeral synostosis, midface hypoplasia, joint contractures, and arachnodactyly.
Observation:
- Presents two new cases of Antley-Bixler syndrome.
- Documents characteristic manifestations and associated malformations observed in these patients.
Findings:
- Detailed diagnostic features of Antley-Bixler syndrome are addressed.
- Inheritance patterns and prenatal findings are discussed.
- Literature review provides context for these new cases.
Implications:
- Enhances understanding of Antley-Bixler syndrome diagnosis and presentation.
- Contributes to the knowledge base for managing this high-mortality condition.
- Informs genetic counseling and prenatal diagnosis strategies.