Literature DB >> 6829601

Brief clinical report: a new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance.

B D Hall, A deLorimier, L H Foster.   

Abstract

Two unrelated children (one male, the other female) had unusual craniofacial anomalies consisting of hemangiomatous branchial clefts, lip pseudoclefts, and identical unusual facial appearance. One also had unilateral microphthalmia and both had congenital nasolacrimal duct obstruction. Two similar, sporadic cases from the literature were also identified. These four cases form the basis of a new, distinctly recognizable pattern of malformation.

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Year:  1983        PMID: 6829601     DOI: 10.1002/ajmg.1320140118

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


  6 in total

1.  Branchio-oculo-facial syndrome. Report of a new case with agenesis of cerebellar vermis.

Authors:  D Mazzone; A Milana; C Carpinato
Journal:  Eur J Pediatr       Date:  1992-04       Impact factor: 3.183

2.  Recurrence of orbital cysts in the branchio-oculo-facial syndrome.

Authors:  D W Fielding; A E Fryer
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

3.  A Case of Branchio-oculo-facial Syndrome.

Authors:  Min Young Park; You Chan Kim
Journal:  Ann Dermatol       Date:  2009-08-31       Impact factor: 1.444

4.  The oculocerebrocutaneous (Delleman) syndrome.

Authors:  L I al-Gazali; D Donnai; S A Berry; B Say; R F Mueller
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

5.  Branchio-oculo-facial syndrome.

Authors:  M L Kulkarni; Shilpa Deshmukh; Ananda Kumar; Preethi M Kulkarni
Journal:  Indian J Pediatr       Date:  2005-08       Impact factor: 1.967

6.  Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree.

Authors:  R König; S Fuchs; C Dukiet
Journal:  Eur J Pediatr       Date:  1994-06       Impact factor: 3.183

  6 in total

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