Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India
Indian Pediatr
;
2022 Jun; 59(6): 463-466
Article
| IMSEAR
| ID: sea-225341
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Journal:
Indian Pediatr
Year:
2022
Type:
Article
Similar
MEDLINE
...
LILACS
LIS