Literature DB >> 11241471

Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome.

C Galasso1, G Scirè, F Fabbri, G L Spadoni, C E Killoran, L G Biesecker, B Boscherini.   

Abstract

Pallister-Hall syndrome is a disorder of development consisting of hypothalamic hamartoma, pituitary dysfunction, central polydactyly and visceral malformations. This disorder is inherited as an autosomal dominant trait and is caused by mutations of the GLI3 gene encoding a zinc finger transcription factor. We describe a case of Pallister-Hall syndrome with growth hormone neurosecretory dysfunction, successfully treated with growth hormone until attainment of final height. We conclude that children with Pallister-Hall syndrome and short stature be evaluated carefully for spontaneous somatotropic function and, if necessary, treated with growth hormone. Copyright 2001 Wiley-Liss. Inc.

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Year:  2001        PMID: 11241471     DOI: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1128>3.0.co;2-s

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


  4 in total

1.  Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Authors:  Jennifer J Johnston; Julie C Sapp; Joyce T Turner; David Amor; Salim Aftimos; Kyrieckos A Aleck; Maureen Bocian; Joann N Bodurtha; Gerald F Cox; Cynthia J Curry; Ruth Day; Dian Donnai; Michael Field; Ikuma Fujiwara; Michael Gabbett; Moran Gal; John M Graham; Peter Hedera; Raoul C M Hennekam; Joseph H Hersh; Robert J Hopkin; Hülya Kayserili; Alexa M J Kidd; Virginia Kimonis; Angela E Lin; Sally Ann Lynch; Melissa Maisenbacher; Sahar Mansour; Julie McGaughran; Lakshmi Mehta; Helen Murphy; Margarita Raygada; Nathaniel H Robin; Alan F Rope; Kenneth N Rosenbaum; G Bradley Schaefer; Amy Shealy; Wendy Smith; Maria Soller; Annmarie Sommer; Heather J Stalker; Bernhard Steiner; Mark J Stephan; David Tilstra; Susan Tomkins; Pamela Trapane; Anne Chun-Hui Tsai; Margot I Van Allen; Pradeep C Vasudevan; Bernhard Zabel; Janice Zunich; Graeme C M Black; Leslie G Biesecker
Journal:  Hum Mutat       Date:  2010-10       Impact factor: 4.878

2.  Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Authors:  Jennifer J Johnston; Isabelle Olivos-Glander; Christina Killoran; Emma Elson; Joyce T Turner; Kathryn F Peters; Margaret H Abbott; David J Aughton; Arthur S Aylsworth; Michael J Bamshad; Carol Booth; Cynthia J Curry; Albert David; Mary Beth Dinulos; David B Flannery; Michelle A Fox; John M Graham; Dorothy K Grange; Alan E Guttmacher; Mark C Hannibal; Wolfram Henn; Raoul C M Hennekam; Lewis B Holmes; H Eugene Hoyme; Kathleen A Leppig; Angela E Lin; Patrick Macleod; David K Manchester; Carlo Marcelis; Laura Mazzanti; Emma McCann; Marie T McDonald; Nancy J Mendelsohn; John B Moeschler; Billur Moghaddam; Giovanni Neri; Ruth Newbury-Ecob; Roberta A Pagon; John A Phillips; Laurie S Sadler; Joan M Stoler; David Tilstra; Catherine M Walsh Vockley; Elaine H Zackai; Touran M Zadeh; Louise Brueton; Graeme Charles M Black; Leslie G Biesecker
Journal:  Am J Hum Genet       Date:  2005-02-28       Impact factor: 11.025

Review 3.  Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Authors:  Qing Fang; Akima S George; Michelle L Brinkmeier; Amanda H Mortensen; Peter Gergics; Leonard Y M Cheung; Alexandre Z Daly; Adnan Ajmal; María Ines Pérez Millán; A Bilge Ozel; Jacob O Kitzman; Ryan E Mills; Jun Z Li; Sally A Camper
Journal:  Endocr Rev       Date:  2016-11-09       Impact factor: 19.871

4.  Pallister-Hall syndrome diagnosed in a young man after an acute adrenal crisis.

Authors:  Anis Grassa; Meriem Yazidi; Jihene Marrakchi; Chaima Bel Hadj Sliman; Ibtissem Oueslati; Melika Chihaoui
Journal:  Clin Case Rep       Date:  2022-08-22
  4 in total

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