Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome

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• 作者：M. C. van Rij ; M. L. Grijsen ; N. M. Appelman-Dijkstra…
• 关键词：Rothmund ; Thomson syndrome ; Poikiloderma ; RECQL4 gene ; Mental retardation/developmental delay/intellectual disability ; Osteoporosis ; Aneuploidy ; Chromosomal instability ; COPS syndrome ; Osteoma cutis ; Calcinosis cutis
• 刊名：European Journal of Pediatrics
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：176
• 期：2
• 页码：279-283
• 全文大小：727KB
• 刊物主题：Pediatrics;
• 出版者：Springer Berlin Heidelberg
• ISSN：1432-1076
• 卷排序：176

文摘

We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this patient was proposed to suffer from a novel disease entity designated as calcinosis cutis, osteoma cutis, poikiloderma and skeletal abnormalities (COPS) syndrome. At the age of 35, he was diagnosed with Hodgkin’s lymphoma. Recently, biallelic pathogenic variants in the RECQL4 gene were detected (c.1048_1049delAG and c.1391-1G>A), confirming a diagnosis of Rothmund-Thomson syndrome (RTS). In the brother of this patient, who had a milder phenotype, a similar diagnosis was made.