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Annotated abstract

Navigating challenges: a child with Apert syndrome and global developmental delay from a low-income family

bmjcr · 2026-03-05 · canonical JSON source

3 visible annotations · policy: published · automated confidence ≥ 75.00%

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Apert syndrome is a rare congenital disorder characterised by craniosynostosis, syndactyly and distinct facial dysmorphisms. We found a child with Apert syndrome from an economically disadvantaged family residing in an urban slum during a routine home visit by the All India Institute of Medical Sciences Bhubaneswar Extended Health Clinic. The child presented with global developmental delay, unvaccinated status and severe malnutrition, manifesting as underweight and stunted growth. Despite being eligible for free healthcare services under the Rashtriya Bal Swasthya Karyakram, the child remained unlinked to it. Contributing factors to this delayed intervention included the family’s low socio-economic status, profound lack of awareness of the condition, poor healthcare-seeking behaviour and insufficient engagement from healthcare workers. Moreover, complex psychosocial issues, such as maternal depression, parental substance abuse, limited social support and insufficient family involvement, further intensified the obstacles to the optimal growth and development of the child, highlighting the multifaceted factors that shape health outcomes in vulnerable populations.