Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis
S M Quinn1, G C M Black, S Biswas
1Manchester Royal Eye Hospital, Manchester. shauna.quinn@cmmc.nhs.uk
Ophthalmic Genetics
|December 29, 2004
Abstract:
A three-generation family presenting with ocular developmental abnormalities, including anterior segment dysgenesis and coloboma, associated with brachydactyly and clinodactyly is presented. Several conditions incorporating ocular and bony limb abnormalities have been described. However, we believe that this family manifests a previously undescribed syndrome due to autosomal dominant or possibly x-linked inheritance with variable expression.
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