Ophthalmic findings in Setleis syndrome: two new cases in a mother and son.
METHODS
Setleis syndrome is a rare ectodermal dysplasia with characteristic ophthalmic findings. We describe the first 2 reported cases in Canadian individuals of Aboriginal descent.


CONCLUSIONS
Although most ophthalmic findings are benign, it is important to recognize the clinical significance for management and genetic counselling. We postulate an autosomal dominant inheritance in our cases.
Kent
Jerrod S
JS
College of Medicine, University of Saskatchewan, Saskatoon, Sask.
Romanchuk
Kenneth G
KG
Lemire
Edmond G
EG
D000328:Adult; D003103:Coloboma / Q000175:diagnosis* / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics; D005140:Eyelashes / Q000002:abnormalities*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D012868:Skin Abnormalities / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome