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J Med Genet. 1992 June; 29(6): 430–431.
PMCID: PMC1015999

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


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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Selected References

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  • Hall BD, deLorimier A, Foster LH. Brief clinical report: a new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance. Am J Med Genet. 1983 Jan;14(1):135–138. [PubMed]
  • Fujimoto A, Lipson M, Lacro RV, Shinno NW, Boelter WD, Jones KL, Wilson MG. New autosomal dominant branchio-oculo-facial syndrome. Am J Med Genet. 1987 Aug;27(4):943–951. [PubMed]
  • Lee WK, Root AW, Fenske N. Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission. Am J Med Genet. 1982 Mar;11(3):345–352. [PubMed]

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