Literature DB >> 20523806

A Case of Branchio-oculo-facial Syndrome.

Min Young Park1, You Chan Kim.   

Abstract

Branchio-oculo-facial syndrome (BOFS) is a rare, autosomal dominant disorder. It is characterized by distinct craniofacial abnormalities including abnormal location of the ears, aplastic cervical skin lesions, malformed auricles, conductive hearing loss, ocular abnormalities, and cleft lip and palate. Herein, we describe a case of BOFS with persistent aplasia cutis of the neck in a 5-year-old girl.

Entities:  

Keywords:  Aplasia cutis; Branchio-oculo-facial syndrome

Year:  2009        PMID： 20523806      PMCID： PMC2861242          DOI： 10.5021/ad.2009.21.3.288

Source DB:  PubMed          Journal:  Ann Dermatol        ISSN： 1013-9087            Impact factor:   1.444


  10 in total

1.  Bilateral dermal thymus of neck in branchio-oculo-facial syndrome.

Authors: 
Journal:  J Plast Reconstr Aesthet Surg       Date:  2006-06-05       Impact factor: 2.740

2.  Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities.

Authors:  T Trummer; D Müller; A Schulze; W Vogel; W Just
Journal:  J Med Genet       Date:  2002-01       Impact factor: 6.318

3.  Bilateral thymus found in association with unilateral cleft lip and palate.

Authors:  I Civi; M Kurtay; S Civi
Journal:  Plast Reconstr Surg       Date:  1989-01       Impact factor: 4.730

4.  Branchio-oculo-facial syndrome.

Authors:  E Raveh; B C Papsin; V Forte
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2000-06-30       Impact factor: 1.675

5.  Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission.

Authors:  W K Lee; A W Root; N Fenske
Journal:  Am J Med Genet       Date:  1982-03

Review 6.  New autosomal dominant branchio-oculo-facial syndrome.

Authors:  A Fujimoto; M Lipson; R V Lacro; N W Shinno; W D Boelter; K L Jones; M G Wilson
Journal:  Am J Med Genet       Date:  1987-08

7.  Branchio-oculo-facial syndrome with bilateral linear scars of the neck.

Authors:  Mohammad A El Darouti; Salonas A Marzouk; Omar A Azzam; Hanan R Nada; Rehab M Sobhi; Iman El Nabarawi
Journal:  Int J Dermatol       Date:  2005-08       Impact factor: 2.736

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

Authors:  B D Hall; A deLorimier; L H Foster
Journal:  Am J Med Genet       Date:  1983-01

9.  TFAP2A mutations result in branchio-oculo-facial syndrome.

Authors:  Jeff M Milunsky; Tom A Maher; Geping Zhao; Amy E Roberts; Heather J Stalker; Roberto T Zori; Michelle N Burch; Michele Clemens; John B Mulliken; Rosemarie Smith; Angela E Lin
Journal:  Am J Hum Genet       Date:  2008-05       Impact factor: 11.025

Review 10.  Further delineation of the branchio-oculo-facial syndrome.

Authors:  A E Lin; R J Gorlin; I W Lurie; H G Brunner; I van der Burgt; I V Naumchik; N V Rumyantseva; S Stengel-Rutkowski; K Rosenbaum; P Meinecke
Journal:  Am J Med Genet       Date:  1995-03-13
  10 in total

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