An unusual ectodermal dysplasia with unique eye defects.
We report a 12-year-old boy with dental, auricular, nasolacrimal duct and unique eyelid anomalies as well as cribriform scrotal atrophy. We believe this is the first description of such a case, although many of the features fit within the spectrum of the ankyloblepharon/ectodermal dysplasia/clefting (AEC) syndrome.
Hill
V A
VA
Consultant Ophthalmologist, Great Ormond Street Hospital, London, UK. virginia.hill@bch.nhs.uk
Nischal
K K
KK
Collin
J R O
JR
Harper
J I
JI
D001284:Atrophy; D002648:Child; D004476:Ectodermal Dysplasia / Q000175:diagnosis*; D005143:Eyelids / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities; D006801:Humans; D007830:Larynx / Q000002:abnormalities; D008297:Male; D012611:Scrotum / Q000473:pathology; D013577:Syndrome