Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis.
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.
Quinn
S M
SM
Manchester Royal Eye Hospital, Manchester. shauna.quinn@cmmc.nhs.uk
Black
G C M
GC
Biswas
S
S
Clayton-Smith
J
J
Lloyd
I C
IC
D000328:Adult; D000869:Anterior Eye Segment / Q000002:abnormalities*; D003103:Coloboma / Q000473:pathology*; D005260:Female; D005532:Foot Deformities, Congenital / Q000473:pathology*; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D010375:Pedigree