Abstract
Objective
To define the spectrum of genetic disorders in patients with short stature visiting the genetic out-patient department in a tertiary care hospital.
Methods
A chart review was done for 455 individuals (10 months-16 yrs) with short stature, who were evaluated at the genetic clinic from 1 January, 2017 upto 31 October, 2018. 226 patients who needed detailed evaluation, the spectrum of genetic diagnosis is presented.
Results
Proportionate short stature was identified in 63% individuals (n=142) of which 93 (65%) were recognizable syndromes such as Turner syndrome, and William syndrome, and RASopathies. In clinically undefined syndromes (39, 27%), a diagnosis could be made by karyotype (n=3/10), chromosomal microarray (6/12) and exome sequencing (1/6). In the 84 children in the disproportionate short stature group (37%), lysosomal storage disorders (LSDs) (45%, n=38) were identified by enzyme analysis in 86.8% and skeletal dysplasias (44%, n=37) identified by skeletal survey in 89% cases.
Conclusions
In undefined syndromic short stature, chromosomal microarray may be the first investigation of choice if phenotyping is not suggestive of a specific genetic syndrome. Exome sequencing can be useful in identifying newer genes among idiopathic and familial short stature cohorts.
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Change history
16 August 2022
An Erratum to this paper has been published: https://doi.org/10.1007/s13312-022-2562-x
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RDP,KS,SBM,ICV: conceptualization and writing original draft; RDP, KS: methodology; ML,PS: cytogenetic analysis of cases; JV,DT: enzyme analysis of cases; RS,SK: molecular analysis of cases. All authors approved the final version of manuscript, and are accountable for all aspects related to the study.
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EIC;Sir Ganga Ram Hospital; No: EC/04/21/1862, dated June 8, 2021.
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Competing interests: None stated
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Singh, K., Puri, R.D., Bijarnia-Mahay, S. et al. Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India. Indian Pediatr 59, 463–466 (2022). https://doi.org/10.1007/s13312-022-2537-y
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DOI: https://doi.org/10.1007/s13312-022-2537-y