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Regions of homozygosity and a novel variant in Steel syndrome: An added dilemma to diagnosis

1 Department of Genetics and Fetal Diagnosis, Fortis Hospital, New Delhi, India
2 Cytogenetics Lab, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
3 Radiology, Sir Ganga Ram Hospital, New Delhi, India

Correspondence Address:
P Paliwal,
Cytogenetics Lab, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpgm.jpgm_1153_21

PMID: 36695248

Steel syndrome is an autosomal recessive disorder that is caused by mutations in COL27A1 gene. The majority of reported cases have been of Puerto Rican origin, with few reports from India. The present case adds to the repertoire of homozygous recessive disorders from non-consanguineous Indian families. With the present case, a 4-year-old girl, we wish to signify that although mutations in several genes are known to cause skeletal abnormalities, identification of underlying mutations is important as it not only helps with the ascertainment of diagnosis but also aids in determining the role of surgical interventions which is particularly true for Steel syndrome, where the outcome of surgical intervention is usually dismal.

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Online since 12th February '04
2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow