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Rothmund syndrome

Pronunciation: rot'mund

Definition: atrophy, pigmentation, and telangiectasia of the skin, usually with juvenile cataract, saddle nose, congenital bone defects, disturbance of hair growth, hypogonadism; autosomal recessive inheritance.

Synonym(s): poikiloderma atrophicans and cataract, poikiloderma congenitale, Rothmund-Thomson syndrome

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.