Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report

Area of Science:

• Medical Genetics
• Human Teratology
• Perinatal Medicine

Background:

• Consanguinity in parents increases the risk of autosomal recessive genetic disorders.
• Congenital anomalies can significantly impact infant survival and quality of life.
• Accurate genetic mapping is crucial for understanding disease etiology and inheritance patterns.

Purpose of the Study:

• To report a case of a newborn with multiple congenital anomalies.
• To identify the chromosomal locus associated with the observed phenotype.
• To contribute to the understanding of rare genetic disorders affecting fetal development.

Main Methods:

• Clinical case presentation of a pregnant woman and her newborn.
• Detailed examination of the newborn's physical anomalies, including craniofacial features and limb malformations.
• Genetic linkage analysis to assign the disease locus to a specific chromosomal region (17q21).

Main Results:

• A female infant presented with severe craniofacial abnormalities and phocomelia of the right upper limb.
• The genetic analysis successfully mapped the disease-causing gene to chromosome 17q21.
• The infant experienced cardiopulmonary arrest and expired four days after birth.

Conclusions:

• The identified locus on chromosome 17q21 is associated with a severe congenital anomaly syndrome.
• This case highlights the importance of genetic evaluation in consanguineous families with affected offspring.
• Further research is warranted to identify the specific gene and mutation responsible for this phenotype.