Pallister-Hall syndrome in a 2-years-old girl

INTRODUCTION: Pallister-Hall syndrome (PHS) is a rare autosomal dominant syndrome characterized by polydactyly, bifid or shortened epiglottis, visceral anomalies, hypothalamic hamartoma often combined with hypopituitarism. PHS is characterized by significant variability in the expression of clinical symptoms. The clinical course ranges from mild with a good prognosis to severe and which can lead to death during the neonatal period. OPIS PRZYPADKU: Dwuletnia dziewczynka z zaznaczonymi cechami dysmorficznymi twarzy, malformacjami konczyn oraz niedoborem hormonu wzrostu. Na podstawie prezentowanych objawow oraz badania genetycznego rozpoznano PHS. SUMMARY: Skeletal malformations, such as polydactyly or oligodactyly, are a markers which can be associated with endocrinological disorders. Quick and correct diagnosis would help in planning treatment during childhood and giving family counseling, including prenatal advice regarding the next pregnancy of the child's mother.