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Roberts syndrome with normal cell division.

L D Keppen¹, S M Gollin, J J Seibert

¹Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock.

American Journal of Medical Genetics

|January 1, 1991

Summary

This summary is machine-generated.

Roberts-SC phocomelia syndrome (RS) is a genetic disorder causing limb defects and developmental delays. A recent case presented RS-like symptoms without the typical chromosomal abnormalities, suggesting a potential variant or new syndrome.

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Area of Science:

Genetics
Developmental Biology
Clinical Medicine

Background:

Roberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder.
RS is characterized by limb defects, craniofacial abnormalities, and growth/mental retardation.
Previous RS cases showed heterochromatin separation and cell division cycle abnormalities.