ICNC Abstracts, ICNC 2018

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Dysmorphology leading to the diagnosis of Schwartz Jampel Syndrome
Jayarekha Raja

Last modified: 2018-09-09


Introduction: Schwartz Jampel Syndrome is a autosomal recessively inherited rare genetic disorder characterized by weakness, muscle stiffness, contractures, bony dysplasias, growth delay with short stature and fixed facial features.

Methods: We report a case study of an 8-year-old boy from Jharkhand who presented to us with delayed bone age and progressive droopy eyelids. He was a developmentally normal child, with an uneventful birth history and an episode of pneumonia at 9 months of age. He developed drooping of eyelids at 4 years of age along with difficulty in opening his mouth completely. On examination, his height and weight were on the15th centile and he had bilateral ptosis, blepharophimosis, microphthalmia, trismus and a limited facial expression with no joint contractures. His systemic examination was normal along with normal electrophysiological studies of his muscles including repetitive nerve stimulation. Magnetic Resonance Imaging of his brain and orbits were normal.

So as a next step we sent off genetic testing for clinical exome sequencing along with microarray. This showed a homozygous likely pathogenic variant c.4432C>T; p.Arg1478Cys in HSPG2 gene confirming our clinical suspicion of Schwartz Jampel Syndrome.

Conclusion: Dysmorphism with the weakness, here in this instance pointed the likelihood of Schwartz Jampel syndrome as a possibility and this in turn lead us to a molecular diagnosis.

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