A severe case of oculo-ectodermal syndrome?
We describe a child with features of the oculo-ectodermal syndrome, who in addition to the cardinal manifestations of cutis aplasia and epibulbar dermoid had a number of other features. These include laryngomalacia, an anterior anus, microcephaly and significant developmental delay. The parents are of New Zealand Maori ancestry and are related as half first cousins, raising the possibility that this syndrome may be recessively inherited.
James
Paul A
PA
Northern Regional Genetic Service, Auckland, New Zealand. pjames@adhb.govt.nz
McGaughran
Julie
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D004475:Ectoderm; D005124:Eye Abnormalities / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D013577:Syndrome