Case Report

Endocrine abnormalities in two siblings with Rothmund Thomson Syndrome

Nagehan Aslan* and Ozgur Pirgon

Published: 11 October, 2018 | Volume 2 - Issue 1 | Pages: 041-045

Rothmund-Thomson syndrome is a rare autosomal recessive disorder characterized by poikiloderma (skin atrophy, telangiectasia, hyper- and hypopigmentation), congenital skeletal abnormalities, short stature, premature aging, and increased risk of malignant disease. Two siblings with Rothmund-Thomson Syndrome showed the following characteristic features: severe growth failure, dystrophic nails, absent eyelashes/eyebrows, small hands, clinodactyly, microdontia and congential poikiloderma. In addition, delayed sexual development with cryptorchidism in the male and Hashimato thyroiditis in the female patient were detected. These cases are presented here because of these endocrine patterns, with the aim of drawing attention to the invisible aspects of Rothmund-Thomson syndrome.

Read Full Article HTML DOI: 10.29328/journal.acem.1001010 Cite this Article Read Full Article PDF


Rothmund-thomson syndrome; Cryptorchidism; Endocrine


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