Pregnancy in a patient with Rothmund-Thomson type 2 syndrome.

Rothmund-Thomson syndrome (RTS; MIM#268400) is an autosomal recessive genodermatosis with <500 cases described in the literature [1]. About 60% of RTS cases carry biallelic pathogenic variants in the RECQL4 gene representing the prevalent RTS subentity (RTS-2) [1]. RTS-2 is characterized by poikiloderma manifesting in the first months of life on photo-exposed areas, short stature, sparse hair, eyelashes and/or eyebrows, skeletal abnormalities, and predisposition to malignancy [1]. Endocrine signs may be present and subfertility is common; however, a few patients have had healthy offspring [2-3].