A Child with Roberts Syndrome | [Journal of College of Physicians and Surgeons--Pakistan : JCPSP • 2011]

Author(s):

1. Rabia Abbas: Department of Paediatrics Medicine, The Children's Hospital and The Institute of Child Health, Lahore, Iqbal Town, Lahore, Pakistan

2. Sahar Waqar: Department of Paediatrics Medicine, The Children's Hospital and The Institute of Child Health, Lahore, Iqbal Town, Lahore, Pakistan

3. Tahir Masood Ahmad: Department of Paediatrics Medicine, The Children's Hospital and The Institute of Child Health, Lahore, Iqbal Town, Lahore, Pakistan

4. Khawaja Ahmad Irfan Waheed: Department of Paediatrics Medicine, The Children's Hospital and The Institute of Child Health, Lahore, Iqbal Town, Lahore, Pakistan

5. Tipu Sultan: Department of Paediatrics Medicine, The Children's Hospital and The Institute of Child Health, Lahore, Iqbal Town, Lahore, Pakistan

6. Ahmad Usaid Qureshi: Department of Paediatrics Medicine, The Children's Hospital and The Institute of Child Health, Lahore, Iqbal Town, Lahore, Pakistan

Abstract:

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.

Page(s): 431-433

DOI: DOI not available

Published: Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 21, Issue: 7, Year: 2011

Keywords:

Roberts SC phocomelia syndrome Tetraphocomelia Cleft palate

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