A Child with Roberts Syndrome: A Case Report
Journal Title: Nepal Journal of Neuroscience - Year 2017, Vol 14, Issue 2
Abstract
rare birth defect causing, skeletal deformities, particularly symmetrical limb reduction and craniofacial anomalies. For any child with limb and craniofacial bony malformations, this syndrome should be considered in the differentials. Although this syndrome represents only a small proportion of the total number of individuals with limb defi ciency, it is important to be identifi ed in order to give accurate genetic counseling including recurrence risk in siblings and possible prenatal diagnosis. This is the case report of a 9 year old female child who presented with defective development of all four extremities and craniofacial abnormalities. The overall clinical and radiological features were suggestive of Roberts syndrome.
Authors and Affiliations
Rajan K Sharma, MS
Keywords
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