eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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4/2019
vol. 25
 
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abstract:

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

Julita A. Nocoń-Bohusz
,
Aleksander M. Basiak
,
Magdalena Bosak-Prus
,
Anna Noczyńska

Pediatr Endocrinol Diabetes Metab 2019; 25 (4): 208-211
Online publish date: 2019/12/30
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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.

Case report
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.

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.

keywords:

Pallister-Hall syndrome, hypopituitarism, hamartoma, polydactyly

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