A child with Roberts syndrome.

Roberts syndrome is a genetically determined 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 deficiency, it is important to be identified in order to give accurate genetic counselling including recurrence risk in siblings and possible prenatal diagnosis. This is the case report of a 22 days old male infant who presented with defective development of all four extremities and craniofacial abnormalities. The overall clinical and radiological features were suggestive of Roberts syndrome.

Citation

Rabia Abbas, Sahar Waqar, Tahir Masood Ahmad, Khawaja Ahmad Irfan Waheed, Tipu Sultan, Ahmad Usaid Qureshi. A child with Roberts syndrome. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP. 2011 Jul;21(7):431-3

Mesh Tags

Substances

PMID: 21777535

search → result