Pallister-Hall Syndrome Presenting in Adolescence

المؤلفون المشاركون

Marshall, Ian
Mahtabfar, Aria
Buckley, Niall
Murphy, Susan
Danish, Shabbar

المصدر

Case Reports in Genetics

العدد

المجلد 2019، العدد 2019 (31 ديسمبر/كانون الأول 2019)، ص ص. 1-4، 4ص.

الناشر

Hindawi Publishing Corporation

تاريخ النشر

2019-03-18

دولة النشر

مصر

عدد الصفحات

4

التخصصات الرئيسية

الأحياء

الملخص 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.

نمط استشهاد جمعية علماء النفس الأمريكية (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

نمط استشهاد الجمعية الأمريكية للغات الحديثة (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

نمط استشهاد الجمعية الطبية الأمريكية (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

نوع البيانات

مقالات

لغة النص

الإنجليزية

الملاحظات

Includes bibliographical references

رقم السجل

BIM-1136058