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Pallister-Hall Syndrome Presenting in Adolescence
Joint Authors
Marshall, Ian
Mahtabfar, Aria
Buckley, Niall
Murphy, Susan
Danish, Shabbar
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-03-18
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Pallister-Hall syndrome (PHS) is an extremely rare syndrome of unknown prevalence with autosomal dominant inheritance due to GLI3 gene mutations classically characterized by the presence of a hypothalamic hamartoma and polydactyly.
Additional diagnostic criteria include bifid epiglottis, imperforate anus, small nails, hypopituitarism, growth hormone deficiency, and genital hypoplasia.
It is typically diagnosed in infancy and early childhood, presenting with seizures and/or precocious puberty due to the hypothalamic hamartoma, and with limb anomalies due to central polydactyly.
Our patient had presented with polysyndactyly at birth.
However, as this is not uncommon in infants and is usually as part of the sporadic, isolated form of polydactyly, no further work up was done.
He then presented at age 16 years with a headache and subjective visual changes, with brain imaging revealing a hypothalamic hamartoma.
He did not have a history of seizures or central precocious puberty.
Genotyping revealed a pathogenic variant affecting the GLI3 gene.
We encourage all clinicians to consider PHS or an associated syndrome with a clinical finding of polydactyly.
Further, as the natural history continues to reveal itself, this patient’s presentation provides important new data to the broad phenotypic spectrum of PHS.
American Psychological Association (APA)
Mahtabfar, Aria& Buckley, Niall& Murphy, Susan& Danish, Shabbar& Marshall, Ian. 2019. Pallister-Hall Syndrome Presenting in Adolescence. Case Reports in Genetics،Vol. 2019, no. 2019, pp.1-4.
https://search.emarefa.net/detail/BIM-1136058
Modern Language Association (MLA)
Mahtabfar, Aria…[et al.]. Pallister-Hall Syndrome Presenting in Adolescence. Case Reports in Genetics No. 2019 (2019), pp.1-4.
https://search.emarefa.net/detail/BIM-1136058
American Medical Association (AMA)
Mahtabfar, Aria& Buckley, Niall& Murphy, Susan& Danish, Shabbar& Marshall, Ian. Pallister-Hall Syndrome Presenting in Adolescence. Case Reports in Genetics. 2019. Vol. 2019, no. 2019, pp.1-4.
https://search.emarefa.net/detail/BIM-1136058
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1136058