[Rothmund's syndrome].
Rothmund's syndrome was observed in a 9 year old boy. Parental consanguinity was present, but no siblings were affected. He presented with rapidly progressive bilateral cataracts. Visual recuperation was excellent after "in the bag" phakoemulsification and intercapsular implantation. There were no other ocular anomalies. Extensive erythematous skin changes appeared when the boy was 3 months old and, at the time of presentation, he had poïkiloderma predominantly in those areas exposed to light (face and hands). There were no associated anomalies of the nails or hair, no endocrine disorder nor other malformations. A brief review of this syndrome is presented and treatment of these cataracts discussed.
Cohen
S Y
SY
Clinique ophtalmologique universitaire, Hôpital de Creteil.
Gaudric
A
A
Lemerle
S
S
Cadot
M
M
Coscas
G
G
D002386:Cataract / Q000150:complications*; D002387:Cataract Extraction; D002648:Child; D006801:Humans; D008297:Male; D011038:Rothmund-Thomson Syndrome / Q000150:complications*; D012871:Skin Diseases / Q000150:complications*; D013577:Syndrome
Syndrome de Rothmund.