Pallister-Hall Syndrome Presenting in Adolescence
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...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2019/6845836 |
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| author | Aria Mahtabfar Niall Buckley Susan Murphy Shabbar Danish Ian Marshall |
| author_facet | Aria Mahtabfar Niall Buckley Susan Murphy Shabbar Danish Ian Marshall |
| author_sort | Aria Mahtabfar |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7633c6d40fc64d82ab09ca60755db530 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-7633c6d40fc64d82ab09ca60755db5302025-08-20T03:35:16ZengWileyCase Reports in Genetics2090-65442090-65522019-01-01201910.1155/2019/68458366845836Pallister-Hall Syndrome Presenting in AdolescenceAria Mahtabfar0Niall Buckley1Susan Murphy2Shabbar Danish3Ian Marshall4Rutgers-Robert Wood Johnson Medical School, 675 Hoes Lane, Piscataway Township, NJ 08854, USARutgers-Robert Wood Johnson Medical School, 675 Hoes Lane, Piscataway Township, NJ 08854, USADivision of Pediatric Hematology and Oncology, Rutgers-Robert Wood Johnson Medical School, Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08901, USADepartment of Neurosurgery, Rutgers-Robert Wood Johnson Medical School, Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08901, USADivision of Pediatric Endocrinology, Rutgers-Robert Wood Johnson Medical School, 89 French Street 2nd Floor, New Brunswick, NJ 08901, USAPallister-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.http://dx.doi.org/10.1155/2019/6845836 |
| spellingShingle | Aria Mahtabfar Niall Buckley Susan Murphy Shabbar Danish Ian Marshall Pallister-Hall Syndrome Presenting in Adolescence Case Reports in Genetics |
| title | Pallister-Hall Syndrome Presenting in Adolescence |
| title_full | Pallister-Hall Syndrome Presenting in Adolescence |
| title_fullStr | Pallister-Hall Syndrome Presenting in Adolescence |
| title_full_unstemmed | Pallister-Hall Syndrome Presenting in Adolescence |
| title_short | Pallister-Hall Syndrome Presenting in Adolescence |
| title_sort | pallister hall syndrome presenting in adolescence |
| url | http://dx.doi.org/10.1155/2019/6845836 |
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