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.
CITATION STYLE
Hayek, F. (2018). Pallister-Hall syndrome with orofacial narrowing and tethered cord: A case report. Journal of Medical Case Reports, 12(1). https://doi.org/10.1186/s13256-018-1868-8
Mendeley helps you to discover research relevant for your work.