Literature DB >> 2758687

The de Lange syndrome. Report of 15 cases.

G Filippi1.   

Abstract

Fifteen cases of the de Lange syndrome are presented. Personal and family histories, clinical features, detailed radiological findings, laboratory data, chromosome studies and dermatoglyphic patterns are reported. A Negro patient and his autopsy findings are described. Radiological diagnostic features are stressed; in particular, the combined presence of a hypoplastic middle phalanx of the index fingers and variable short metatarsal appear to be two additional features which are diagnostically helpful. The etiology of the syndrome is unknown; however, there is some evidence to suggest a genetic basis. The literature is briefly reviewed.

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Year:  1989        PMID: 2758687     DOI: 10.1111/j.1399-0004.1989.tb02955.x

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


  5 in total

Review 1.  Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.

Authors:  Samantha A Schrier; Ilana Sherer; Matthew A Deardorff; Dinah Clark; Lynn Audette; Lynette Gillis; Antonie D Kline; Linda Ernst; Kathleen Loomes; Ian D Krantz; Laird G Jackson
Journal:  Am J Med Genet A       Date:  2011-11-08       Impact factor: 2.802

2.  Total hip reconstruction in a woman with Cornelia de Lange syndrome: a case report.

Authors:  R E Grant; J A Schneider; E J Ferguson; P B Cummings
Journal:  J Natl Med Assoc       Date:  1997-08       Impact factor: 1.798

3.  A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study.

Authors:  Seyyed-Mohsen Hosseininejad; Behnaz Bazrafshan; Ehsan Alaee
Journal:  J Clin Diagn Res       Date:  2016-02-01

4.  Aesthetic and functional management of a patient with Cornelia de Lange syndrome.

Authors:  Dexton Antony Johns; Dnyanesh L Bhonsale; V Y Shivashanker; Manu Johns
Journal:  Contemp Clin Dent       Date:  2012-04

Review 5.  Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Authors:  Antonie D Kline; Joanna F Moss; Angelo Selicorni; Anne-Marie Bisgaard; Matthew A Deardorff; Peter M Gillett; Stacey L Ishman; Lynne M Kerr; Alex V Levin; Paul A Mulder; Feliciano J Ramos; Jolanta Wierzba; Paola Francesca Ajmone; David Axtell; Natalie Blagowidow; Anna Cereda; Antonella Costantino; Valerie Cormier-Daire; David FitzPatrick; Marco Grados; Laura Groves; Whitney Guthrie; Sylvia Huisman; Frank J Kaiser; Gerritjan Koekkoek; Mary Levis; Milena Mariani; Joseph P McCleery; Leonie A Menke; Amy Metrena; Julia O'Connor; Chris Oliver; Juan Pie; Sigrid Piening; Carol J Potter; Ana L Quaglio; Egbert Redeker; David Richman; Claudia Rigamonti; Angell Shi; Zeynep Tümer; Ingrid D C Van Balkom; Raoul C Hennekam
Journal:  Nat Rev Genet       Date:  2018-10       Impact factor: 53.242

  5 in total

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