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Open Access 01-12-2018 | Case report

Pallister–Hall syndrome with orofacial narrowing and tethered cord: a case report

Published in: Journal of Medical Case Reports | Issue 1/2018

Abstract

Background

Pallister–Hall syndrome is a rare, autosomal dominant, genetic disorder characterized by different congenital abnormalities: hypothalamic hamartoblastoma, bifid or shortened epiglottis, polydactyly, renal anomalies, and imperforate anus.

Case presentation

In this case report, we describe the case of a 13-year-old Lebanese-Armenian boy born with Pallister–Hall syndrome showing newly associated manifestations (orofacial narrowing and tethered cord), and currently showing a spontaneous puberty with normal growth pattern following management with growth hormones.

Conclusions

This case report shows a practical approach to this very rare syndrome, mainly with testosterone and growth hormones, and its follow-up in the long term. Being familiar with such cases may allow improvement of our knowledge for better management in the future.

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Title: Pallister–Hall syndrome with orofacial narrowing and tethered cord: a case report
Publication date: 01-12-2018
Published in: Journal of Medical Case Reports / Issue 1/2018
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-018-1868-8

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Pallister–Hall syndrome with orofacial narrowing and tethered cord: a case report

Abstract

Background

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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