Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report
2008
Femoral-tibial synostosis in a child with Roberts syndrome: a case report
Sample size: 1
publication
Evidence: low
Author Information
Author(s): Al Kaissi Ali, Csepan Robert, Klaushofer Klaus, Grill Franz
Primary Institution: Ludwig-Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling
Conclusion
The study highlights the importance of recognizing associated malformations in diagnosing Roberts syndrome.
Supporting Evidence
- Roberts syndrome is characterized by severe limb malformations and craniofacial anomalies.
- The child exhibited significant unilateral femoral-tibial synostosis as an additional malformation.
- Prenatal and postnatal growth retardation were observed in the child.
Takeaway
This report is about a two-year-old boy with a rare condition called Roberts syndrome, which caused him to have severe limb malformations.
Methodology
The case report details the clinical and radiographic assessment of a child with Roberts syndrome.
Participant Demographics
A two-year-old boy of Austrian origin; parents are first cousins.
Digital Object Identifier (DOI)
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