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Related Experiment Video

Updated: Dec 6, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Pseudo-Roberts Syndrome: An Entity or Not?

Behzad Salari¹, Louis P Dehner¹

¹Department of Pathology and Immunology, Washington University in St. Louis, St. Louis, Missouri, USA.

Fetal and Pediatric Pathology

|October 7, 2020

Summary

A stillborn infant presented with severe limb malformations characteristic of Roberts syndrome but lacked the typical ESCO2 gene mutation. This case may represent a distinct pseudo-Roberts syndrome, highlighting genetic heterogeneity in developmental disorders.

Keywords:

Roberts syndrome autopsy phocomelia tetra-phocomelia

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Area of Science:

Genetics
Developmental Biology
Clinical Medicine

Background:

Roberts syndrome is a rare genetic disorder.
It is characterized by severe limb malformations (tetra-phocomelia).
Abnormalities in the ESCO2 gene are typically associated with Roberts syndrome.

Observation:

A male stillborn infant exhibited tetra-phocomelia and other severe anomalies.
Prenatal and autopsy findings included schizencephaly, micrognathia, oligodactyly, and cardiopulmonary malformations.
Karyotype, chromosomal microarray, and ESCO2 gene testing were all normal.

Findings:

The infant displayed a phenotype consistent with the Roberts syndrome spectrum.
However, no mutation in the ESCO2 gene was identified.
This suggests a potential genetic variant or a different etiology.

Implications:

This case could be the first reported instance of pseudo-Roberts syndrome.
It underscores the genetic heterogeneity underlying severe limb malformations.
Further research is needed to identify other genetic factors contributing to Roberts syndrome-like phenotypes.