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Article

Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation.

BMJ case reports - 23 Jan 2018

Salih Anas, Inoue Susumu, Onwuzurike Nkechi

Abstract excerpt

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder with clinical features consisting of poikiloderma, skeletal abnormalities, sparse hair, absent or scanty eyelashes and eyebrows and short stature. Patients with RTS due to genetic mutations of RECQL4 genes carry a high risk of developing osteosarcoma during childhood. Because of this, early genetic diagnosis is important. Here, we describe a...

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Identifiers

PMID: 29367366
DOI: 10.1136/bcr-2017-222384
PMCID: PMC5786930

Genes

RECQL4

Provenance

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