Literature DB >> 438926

Median cleft face syndrome or frontonasal dysplasia: a case report with associated kidney malformation.

J Roizenblatt, A Wajntal, A J Diament.   

Abstract

The authors present a case of an 11-month-old girl with the medial cleft face syndrome and the following malformations: ocular hyperterolism, primary telecanthus, cleft nose with absent tip, broad nasal root, complete absence of the left upper lid, and abnormal hair-line implantation in the corresponding frontal region, high arched palate, neurosensorial deafness and agenesia of the right kidney. The authors propose that the eyelid is responsible for the area of hair growth suppression around the eyes. This is the first case report of median cleft face syndrome associated with renal agenesia.

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Year:  1979        PMID: 438926     DOI: 10.3928/0191-3913-19790101-05

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN: 0191-3913            Impact factor:   1.402


  3 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

Review 2.  Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives.

Authors:  Hatem A Tawfik; Mohamed H Abdulhafez; Yousef A Fouad
Journal:  Ophthalmic Plast Reconstr Surg       Date:  2015 Jan-Feb       Impact factor: 1.746

3.  Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles.

Authors:  Melissa Zattoni Antoneli; Célia Maria Giacheti; Kátia Flores Genaro; Neivo Luiz Zorzetto; Antonio Richieri-Costa
Journal:  Braz J Otorhinolaryngol       Date:  2011 Sep-Oct
  3 in total

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