Genetic syndromes and skeletal dysplasia associated with short stature – A case series

Abstract

Introduction: Stature has a very high heritability index of about 80%. There are multiple genes which regulate the chondrogenesis at the growth plate. It is but natural that mutations or defects involving these genes lead to normal variant short stature in case of mild defects and severe pathologic short stature in case of strong defects. Genetic syndromes, primordial short stature syndromes, and skeletal dysplasia form the majority of genetic causes of pathologic short stature. Materials and Methods: Here, we present 25 patients evaluated in the genetic clinic and a genetic cause could be identified in 20 of them. Results: Systematic approach to the evaluation of short stature – differentiating proportionate and disproportionate, differentiating primordial from postnatal onset short stature along with appropriate genetic tests can delineate the definite cause in up to 80% of patients with short stature. The common genetic syndromes diagnosed included Noonan syndrome, Kabuki syndrome and common skeletal dysplasia diagnosed were achondroplasia and epiphyseal dysplasia. Some of the rare syndromes diagnosed were Kenny-Caffey syndrome, 12p-deletion syndrome, and Dyggve–Melchior–Clausen syndrome. Conclusion: This series of short-stature cases with phenotype-genotype delineation strengthens the need for structured evidence-based protocol for the multi-disciplinary management of short stature.

Keywords

• achondroplasia
• noonan
• primordial dwarfism
• short stature
• skeletal dysplasia