Literature DB >> 15365457

Filippi syndrome: two cases with ectodermal features, expanding the phenotype.

S Sharif1, D Donnai.   

Abstract

We report two unrelated children with Filippi syndrome. Both show typical facial dysmorphism, syndactyly of fingers and toes, growth retardation, postnatal microcephaly and developmental delay, particularly involving speech. In addition both children have unusual teeth and hair. We review the literature and propose that neurological and ectodermal involvement may be under-recognised features of the syndrome.

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Year:  2004        PMID: 15365457     DOI: 10.1097/00019605-200410000-00004

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  4 in total

1.  Filippi Syndrome: Report of a Rare Case.

Authors:  Lata Goyal; Jagdish Prasad Goyal; Bhanu Kiran Bhakhri; Ashi Chug
Journal:  J Clin Diagn Res       Date:  2015-12-01

2.  Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Authors:  Muhammad Sajid Hussain; Agatino Battaglia; Sandra Szczepanski; Emrah Kaygusuz; Mohammad Reza Toliat; Shin-ichi Sakakibara; Janine Altmüller; Holger Thiele; Gudrun Nürnberg; Shahida Moosa; Gökhan Yigit; Filippo Beleggia; Sigrid Tinschert; Jill Clayton-Smith; Pradeep Vasudevan; Jill E Urquhart; Dian Donnai; Alan Fryer; Ferda Percin; Francesco Brancati; Angus Dobbie; Robert Smigiel; Gabriele Gillessen-Kaesbach; Bernd Wollnik; Angelika Anna Noegel; William G Newman; Peter Nürnberg
Journal:  Am J Hum Genet       Date:  2014-11-06       Impact factor: 11.025

3.  Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

Authors:  Tamar I de Vries; Glen R Monroe; Martine J van Belzen; Christian A van der Lans; Sanne Mc Savelberg; William G Newman; Gijs van Haaften; Rutger A Nievelstein; Mieke M van Haelst
Journal:  Eur J Hum Genet       Date:  2016-03-09       Impact factor: 4.246

4.  A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2.

Authors:  Muhammad Jawad Hassan; Muhammad Salman Chishti; Syed Muhammad Jamal; Muhammad Tariq; Wasim Ahmad
Journal:  Hum Genet       Date:  2007-12-11       Impact factor: 4.132

  4 in total

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