Extending the Pallister‐Hall syndrome to include other central nervous system malformations
David P. Finnigan, Sterling K. Clarren, Joel E. Haas
Abstract
David P. Finnigan, Sterling K. Clarren, Joel E. Haas
Abstract
Hall-Pallister syndrome is defined by specific facial anomalies, post axial polydactyly, imperforate anus, and brain anomalies including a rare diencephalic mass, hypothalamic hamartoblastoma. In this article, two patients are described with the usual features of Hall-Pallister syndrome, including diencephalic anomalies, but without hamartoblastomas. These patients may suggest an appropriate extension of the definition of the Hall-Pallister syndrome.
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Hall-Pallister syndrome is defined by specific facial anomalies, post axial polydactyly, imperforate anus, and brain anomalies including a rare diencephalic mass, hypothalamic hamartoblastoma. In this article, two patients are described with the usual features of Hall-Pallister syndrome, including diencephalic anomalies, but without hamartoblastomas. These patients may suggest an appropriate extension of the definition of the Hall-Pallister syndrome.
Key concepts: Imperforate anus, Polydactyly, Medicine, Hypothalamic hamartoma, Anatomy, Endocrinology, Precocious puberty, Hormone