Gangaram study shows link between short stature in kids and genetic changes- Ft. Dr. Ratna Dua Puri - Video
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Overview
Normal variation in adult height is largely due to inherited genetic factors. But, by contrast, at the extreme of short stature, patients often have changes in a single gene, resulting in large effects on height.
In clinically undefined syndromes of short stature with development delay with dysmorphism, the chromosomal microarray may be the first investigation of choice. While in familial or idiopathic short stature, Exome Sequencing may identify short stature syndromes.
In conversation with, Dr. Ratna Dua Puri, Chairperson, Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, co-author of the recent research published in the Indian Pediatrics Journal, who talks about the importance of early diagnosis and the need for awareness among pediatricians before advising tests.
Reference: Singh K, Puri RD, Bijarnia-Mahay S, Lall M, Verma J, Saxena R, Kohli S, Thomas D, Saviour P, Verma IC. Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India. Indian Pediatr. 2022 Jun 15;59(6):463-466. PMID: 35695141
Speakers
Dr. Nandita Mohan is a practicing pediatric dentist with more than 5 years of clinical work experience. Along with this, she is equally interested in keeping herself up to date about the latest developments in the field of medicine and dentistry which is the driving force for her to be in association with Medical Dialogues. She also has her name attached with many publications; both national and international. She has pursued her BDS from Rajiv Gandhi University of Health Sciences, Bangalore and later went to enter her dream specialty (MDS) in the Department of Pedodontics and Preventive Dentistry from Pt. B.D. Sharma University of Health Sciences. Through all the years of experience, her core interest in learning something new has never stopped. She can be contacted at editorial@medicaldialogues.in. Contact no. 011-43720751
Dr. Ratna Dua Puri is the Chairperson of Institute of Medical Genetics & Genomics at Sir Ganga Ram Hospital, New Delhi.
Dr Kamal Kant Kohli-MBBS, DTCD- a chest specialist with more than 30 years of practice and a flair for writing clinical articles, Dr Kamal Kant Kohli joined Medical Dialogues as a Chief Editor of Medical News. Besides writing articles, as an editor, he proofreads and verifies all the medical content published on Medical Dialogues including those coming from journals, studies,medical conferences,guidelines etc. Email: drkohli@medicaldialogues.in. Contact no. 011-43720751