Literature DB >> 1619642

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

D W Fielding1, A E Fryer.   

Abstract

Two sibs with the branchio-oculo-facial syndrome are reported. They both have orbital haemangiomatous cysts, which is a previously unreported feature. Both parents are clinically normal and unrelated. This disorder has been reported showing autosomal dominant transmission so this family could represent either an autosomal recessive form or germline mosaicism for the dominant gene.

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Year:  1992        PMID: 1619642      PMCID: PMC1015999          DOI: 10.1136/jmg.29.6.430

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


  3 in total

1.  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 2.  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

3.  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
  3 in total
  1 in total

1.  Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

Authors:  Gaia Gestri; Robert J Osborne; Alexander W Wyatt; Dianne Gerrelli; Susan Gribble; Helen Stewart; Alan Fryer; David J Bunyan; Katrina Prescott; J Richard O Collin; Tomas Fitzgerald; David Robinson; Nigel P Carter; Stephen W Wilson; Nicola K Ragge
Journal:  Hum Genet       Date:  2009-12       Impact factor: 4.132

  1 in total

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