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Updated: May 30, 2026

Observing Mitotic Division and Dynamics in a Live Zebrafish Embryo

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Published on: July 15, 2016

A child with Roberts syndrome.

Rabia Abbas¹, Sahar Waqar, Tahir Masood Ahmad

¹Department of Paediatrics Medicine, The Children's Hospital and The Institute of Child Health, Lahore. rabiaabbas77@gmail.com

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP

|July 23, 2011

Summary

Roberts syndrome is a rare genetic birth defect causing limb and craniofacial abnormalities. Early identification is crucial for genetic counseling and prenatal diagnosis.

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Area of Science:

Genetics
Pediatrics
Medical Case Reports

Background:

Roberts syndrome is a rare genetic disorder characterized by skeletal deformities.
It primarily affects limb development, causing symmetrical reduction, and also presents craniofacial anomalies.
Differential diagnosis for limb and craniofacial malformations should include Roberts syndrome.

Observation:

This report details a case of a 22-day-old male infant.
The infant exhibited developmental defects in all four extremities.
Craniofacial abnormalities were also noted in the infant.

Findings:

Clinical examination revealed significant malformations of the extremities.
Radiological assessment showed abnormalities consistent with severe skeletal dysplasia.
The presented features strongly suggested a diagnosis of Roberts syndrome.

Implications:

Accurate diagnosis of Roberts syndrome is vital for affected families.
It enables precise genetic counseling regarding recurrence risks.
Prenatal diagnosis options can be discussed with prospective parents.