Short Stature Syndromes: Case Series from India

Abstract

Syndromes causing short stature include Noonan syndrome (NS), Williams syndrome, and Silver–Russell syndrome (SRS). SRS is a primordial dwarfism with genetic heterogeneity. The SRS children present with prenatal growth retardation, neonatal hypoglycemia, feeding difficulties, physical asymmetry, with scoliosis and cardiac defect in some cases. The incidence is up to 1 in 100,000. Uniparental disomy, methylation abnormalities, and variants in some genes have been found underlying such phenotype. Growth hormone therapy has been used to improve the height gain in these patients. NS has genetic heterogeneity and most patients present with short stature with or without cardiac defect. Multiple genetic variants, mostly autosomal dominant, contribute to the phenotype. With the availability of next-generation sequencing, more and more genetic disorders causing short stature are being identified in different ethnic populations like Kabuki syndrome and Nance–Horan syndrome. Here, we present some cases of SRS and other additional syndromes with dysmorphism seen in past 5 years.

Keywords

Noonan syndrome - Kabuki syndrome - Silver–Russell syndrome - MLPA - NGS

Data Availability Statement

Data for the NGS patients is available with the corresponding author and not given at present due to privacy or ethical restrictions.

Publication History

Received: 08 December 2020

Accepted: 28 January 2021

Article published online:
14 April 2021

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