Literature DB >> 1746599

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

D P Finnigan1, S K Clarren, J 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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Year:  1991        PMID: 1746599     DOI: 10.1002/ajmg.1320400403

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  Recurrence of Pallister-Hall syndrome in two sibs.

Authors:  H M Thomas; P J Todd; D Heaf; A E Fryer
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

2.  GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization.

Authors:  S H Shin; P Kogerman; E Lindström; R Toftgárd; L G Biesecker
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-16       Impact factor: 11.205

3.  A case of systemic aplasia cutis congenita: a newly recognized syndrome?

Authors:  Tokio Sugiura; Masanori Kouwaki; Shusuke Kiyosawa; Yoshie Sasada; Matsuyoshi Maeda; Kenji Goto; Norihisa Koyama
Journal:  Eur J Pediatr       Date:  2007-05-23       Impact factor: 3.183

  3 in total

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