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

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

Structure of the state government ministries and offices and respective roles in the deworming programme in Bihar state.

<p>Leveraging of the existing state government structures was critical for the successful rollout of large-scale operations, including drug procurement and delivery, training, community sensitization, and reporting.</p

Examples of community sensitization and awareness posters.

<p>Phase-wise information on the programme. The posters were also translated into Hindi and demonstrate the level of dissemination of programme information to the communities, including dates to expect the deworming day to occur as well as the”mop-up” days to cover children who could not attend the deworming day. The repeating dates across the months provided a tactic with which to galvanize the deworming days in community members’ minds.</p

Predictive prevalence map of soil-transmitted helminths in Bihar state.

<p>Predictive mapping was used to inform the state wide deworming coverage in Bihar. The map shows areas of high prevalence (≥50% infection) in red, and moderate prevalence (≥20% and <50% infection) in orange. The map presented was developed by Jenny Smith as part of the Global Atlas of Helminth Infections project (<a href="http://www.thiswormyworld.org/" target="_blank">www.thiswormyworld.org</a>)</p

School-based deworming cascaded training and programme rollout in Bihar.

<p><b>A,</b> The incremental three-phased approach, including numbers targeted in each phase. Timelines are shown, with indications of planning phases (light grey), training phases (light purple), and district-level activity (dark blue). Deworming days are indicated in red arrows. District-level activity includes school-level activities and the cascaded training of teachers and Primary Health Centre staff. <b>B</b>, Structure and design of cascaded training sessions from programme level to school level, including numbers trained and trainees. The cascaded system of training and dissemination of materials led to significant cost reductions and maximized use of available resources. Abbreviations: DtW/PCD, Deworm the World and the Partnership for Child Development; DIET, District Institute of Education and Training; SIHFW, State Institute of Health and Family Welfare; SCERT, State Council of Education Research and Training; CRP, Cluster Resource Persons; ASHA, Accredited Social Health Activist; BRP, Block Resource Persons; BHM, block health managers; CRCC, Cluster Resource Centres Coordinator; PHC, Primary Health Centre; ANM, Auxiliary Nurse Midwife; HQ, headquarters.</p