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

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.