EC Paediatrics

Roberts syndrome is a rare genetic disorder characterized by symmetrical limb malformation and craniofacial abnormalities that may be associated with organ malformations. The diagnosis is suspected clinically and confirmed by genetic testing. There is a risk of recurrence in siblings, hence the importance of genetic counseling.

We report the case of a female newborn admitted on day 1 of life with incomplete development of all four extremities and craniofacial anomalies. The clinical features were suggestive of Roberts syndrome.

 Keywords: Roberts Syndrome; Neonatal Case; Craniofacial Anomalies

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