Search tips
Search criteria 


Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Med Genet. 1988 May; 25(5): 313–321.
PMCID: PMC1050457

Sorsby syndrome: a report on further generations of the original family.


Sorsby syndrome is a dominantly inherited combination of bilateral macular colobomas and apical dystrophy of the hands and feet (brachydactyly type B). We report on a further three affected members of the family originally described by Sorsby. Two of these have a single kidney, two have hearing loss, and one has a uterine anomaly.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (2.6M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Peel S, Stewart I, Bulmer D. Metrial gland cells in deciduomata of pseudopregnancy. J Anat. 1979 Aug;129(Pt 1):21–30. [PMC free article] [PubMed]
  • Phillips CI, Griffiths DL. Macular coloboma and skeletal abnormality. Br J Ophthalmol. 1969 May;53(5):346–349. [PMC free article] [PubMed]
  • Smith RD, Fineman RM, Sillence DO, Lester PD, Nixon GW, Rimoin DL, Lachman RS. Congenital macular colobomas and short-limb skeletal dysplasia. Am J Med Genet. 1980;5(4):365–371. [PubMed]
  • Bard LA. Congenital contractural arachnodactyly and intraocular colobomas. Birth Defects Orig Artic Ser. 1979;15(5B):189–205. [PubMed]
  • Halal F, Homsy M, Perreault G. Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. Am J Med Genet. 1984 Apr;17(4):753–762. [PubMed]
  • Fitch N. Classification and identification of inherited brachydactylies. J Med Genet. 1979 Feb;16(1):36–44. [PMC free article] [PubMed]
  • Halal F. A new syndrome of severe upper limb hypoplasia and Müllerian duct anomalies. Am J Med Genet. 1986 May;24(1):119–126. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group