1991American Journal of Medical GeneticsRequires access

Extending the Pallister‐Hall syndrome to include other central nervous system malformations

David P. Finnigan, Sterling K. Clarren, Joel E. Haas

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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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What this paper is about

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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OpenAlex reports 24 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available 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.

Key concepts: Imperforate anus, Polydactyly, Medicine, Hypothalamic hamartoma, Anatomy, Endocrinology, Precocious puberty, Hormone

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