Skeletal Dysplasia in a Neonate with Clinical Features of Edwards Syndrome: A Case Report

1. Junior Resident, Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi, Wardha, Maharashtra, India. 2. Professor, Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi, Wardha, Maharashtra, India. 3. Assistant Professor, Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi, Wardha, Maharashtra, India.

Abstract

Neonatal skeletal dysplasias present a unique diagnostic challenge due to their phenotypic overlap with various syndromic and metabolic conditions. Edward syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of an extra copy of chromosome 18 in a cell. Skeletal dysplasias, a heterogeneous group of disorders affecting bone and cartilage development, are not commonly associated with trisomy 18 but can co-exist and complicate the clinical picture. In this case, a female neonate presented with the symptoms of skeletal dysplasia, such as a depressed nasal bridge, prominent frontal bossing, short, stubby fingers with apparent overcrowding, a short trunk, and bilateral rocker-bottom feet. Her X-ray demonstrated shortened metacarpals and phalanges with metaphyseal flaring. Routine laboratory investigations showed a normal alkaline phosphatase level (116 U/L) and serum calcium (8.2 mg/dL), but a significantly deficient vitamin D level (9.93 ng/mL); her mother’s vitamin D level was also found to be deficient. In the present case, clinical findings of Edwards syndrome co-existed with skeletal dysplasia. This highlights the need to integrate clinical, biochemical and genetic insights for early diagnosis and holistic patient care. Additionally, comprehensive genetic and multi evaluations are essential to differentiate complex congenital anomalies and guide optimal neonatal management. Early identification is critical, not only for immediate clinical management but also for guiding long-term prognostic and genetic counselling strategies.

Antenatal counselling, Antenatal screening, Chromosomal anomalies, Congenital anomalies, Genetic evaluation