Pallister-Hall syndrome: A 3-year-old girl with short stature and polydactyly

Abstract

A 3.1-year-old girl presented with short stature and developmental delay. She had a high-pitched voice, broad forehead, midfacial hypoplasia, hypoplastic labia, and bilateral mesoaxial polydactyly involving upper limbs. Biochemical reports were suggestive of isolated growth hormone deficiency (GHD) and magnetic resonance imaging revealed a large hypothalamic hamartoma (HH). The presence of auxological, clinical, and biochemical findings of GHD together with polydactyly and HH clinched the diagnosis of Pallister-Hall Syndrome. There are approximately 100 cases reported worldwide, which points toward the rarity of this disorder. Moreover, in contrast to most cases, our case had significant developmental delay.