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Literature DB >> 8591673

Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome.

M Löw¹, J R Moringlane, J Reif, D Barbier, G Beige, H Kolles, C Kujat, K D Zang, W Henn.

Abstract

We report on a 53-year-old woman and her 20-year-old son who both presented with polysndactyly, without other external malformations or mental retardation. MRI imaging revealed, as an incidental finding, asymptomatic hypothalamic hamartomas in both patients. The siblings of both mother and son are unaffected. This family may represent an autosomal dominant variant of Pallister-Hall syndrome.

Entities: Disease Species

Mesh：

Year: 1995 PMID： 8591673 DOI： 10.1111/j.1399-0004.1995.tb04090.x

Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438

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Cited

6 in total

1. Pallister-Hall syndrome.

Authors: L G Biesecker; J M Graham
Journal: J Med Genet Date: 1996-07 Impact factor: 6.318

2. Pallister-Hall syndrome: clinical and MR features.

Authors: J S Kuo; S O Casey; L Thompson; C L Truwit
Journal: AJNR Am J Neuroradiol Date: 1999 Nov-Dec Impact factor: 3.825

3. 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

Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome.

1. Pallister-Hall syndrome.

2. Pallister-Hall syndrome: clinical and MR features.

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

4. [Rare mesenchymal lesions in siblings. Two case reports].

5. Congenital anomalies of kidney and hand: a review.

6. Pallister-Hall syndrome with orofacial narrowing and tethered cord: a case report.