Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India

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.

Keywords

Chromosomal microarray analysis, Etiology, Exome sequencing

Citation

Singh Kanika, Puri Ratna Dua, Bijarnia-Mahay Sunita, Lall Meena, Verma Jyotsna, Saxena Renu, Kohli Sudha, Thomas Divya, Saviour Pushpa, Verma IC. Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India. Indian Pediatrics. 2022 Jun; 59(6): 463-466

URI

https://imsear.searo.who.int/handle/123456789/225341

Collections

Indian Pediatrics

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