Literature DB >> 2738904

Frontonasal dysplasia, congenital heart defect, and short stature: a further observation.

P Meinecke1, W Blunck.   

Abstract

We present a mildly retarded boy with frontonasal dysplasia, valvular aortic stenosis, short stature, and small head circumference. In addition, mild genital anomalies and bilateral Sydney lines were present. Strikingly similar cases recently published by de Moor et al suggest a defined clinical entity.

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Mesh：

Year:  1989        PMID： 2738904      PMCID： PMC1015631          DOI： 10.1136/jmg.26.6.408

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  2 in total

Review 1.  Noonan syndrome.

Authors:  J E Allanson
Journal:  J Med Genet       Date:  1987-01       Impact factor: 6.318

2.  Frontonasal dysplasia associated with tetralogy of Fallot.

Authors:  M M De Moor; R Baruch; D G Human
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318
  2 in total
  2 in total

1.  Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice.

Authors:  Ben Fogelgren; Mari C Kuroyama; Brandeis McBratney-Owen; Allyson A Spence; Laura E Malahn; Mireille K Anawati; Chantelle Cabatbat; Vernadeth B Alarcon; Yusuke Marikawa; Scott Lozanoff
Journal:  Dev Dyn       Date:  2008-07       Impact factor: 3.780

2.  Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1.

Authors:  Tamer Mansour; Sainan Wei; Michael Netzloff; Tarek Mohamed; Brian Schutte; Said A Omar
Journal:  AJP Rep       Date:  2015-05-15
  2 in total

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