Nocoń-Bohusz Julita, Basiak Aleksander, Bosak-Prus Magdalena, Noczyńska Anna
Department Endocrinology and Diabetology for Children and Adolescent, Wroclaw Medical University, Poland.
Pediatr Endocrinol Diabetes Metab. 2019;25(4):208-211. doi: 10.5114/pedm.2019.89253.
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.
Two-years-old girl with facial dysmorphia, skeletal malformations of hand and feet and growth hormone deficiency. PHS was diagnosed on the basis of the presented symptoms and genetic tests.
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.
帕利斯特 - 霍尔综合征（PHS）是一种罕见的常染色体显性综合征，其特征为多指（趾）畸形、会厌裂或缩短、内脏异常、下丘脑错构瘤常合并垂体功能减退。PHS的临床症状表现具有显著变异性。临床病程从轻症、预后良好到重症不等，重症可导致新生儿期死亡。
一名两岁女童，有面部畸形、手足骨骼畸形及生长激素缺乏。根据所呈现的症状和基因检测诊断为PHS。
骨骼畸形，如多指（趾）或少指（趾）畸形，是可能与内分泌紊乱相关的标志。快速准确的诊断有助于规划儿童期治疗并提供家庭咨询，包括就患儿母亲的下一胎妊娠提供产前建议。
