Literature DB >> 6846405

Brief clinical report: two children with de novo del(9p).

R S Young, P Bader, C G Palmer, S G Kaler, M E Hodes.   

Abstract

We describe two patients with characteristic manifestations of the del(9p) syndrome. Among the prominent manifestation are moderate mental retardation, trigonocephaly, flat nasal bridge, anteverted nostrils, long philtrum, square and hyperconvex nails, and apparently long digits. The metacarpophalangeal pattern profiles of the patients showed that the clinical impression of long fingers may be due to relative shortness of the metacarpals rather than to elongation of the phalanges.

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Year:  1983        PMID: 6846405     DOI: 10.1002/ajmg.1320140416

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


  4 in total

Review 1.  Eleven new cases of del(9p) and features from 80 cases.

Authors:  J L Huret; C Leonard; B Forestier; M O Rethoré; J Lejeune
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

2.  Metacarpophalangeal pattern profile analysis in clinical genetics: an applied anthropometric method.

Authors:  M G Butler; F J Meaney; S G Kaler
Journal:  Am J Phys Anthropol       Date:  1986-06       Impact factor: 2.868

Review 3.  Pathology in metopic synostosis.

Authors:  Pinar Karabagli
Journal:  Childs Nerv Syst       Date:  2013-10-03       Impact factor: 1.475

4.  Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

Authors:  Lisenka E L M Vissers; Timothy C Cox; A Murat Maga; Kieran M Short; Fenny Wiradjaja; Irene M Janssen; Fernanda Jehee; Debora Bertola; Jia Liu; Garima Yagnik; Kiyotoshi Sekiguchi; Daiji Kiyozumi; Hans van Bokhoven; Carlo Marcelis; Michael L Cunningham; Peter J Anderson; Simeon A Boyadjiev; Maria Rita Passos-Bueno; Joris A Veltman; Ian Smyth; Michael F Buckley; Tony Roscioli
Journal:  PLoS Genet       Date:  2011-09-08       Impact factor: 5.917

  4 in total

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