Figures & data
Figure 1. Telomere length and mode(s) of inheritance usually present in telomere biology disorders (TBDs). Telomere length testing should be considered for all patients with the indications shown. All patients with bone marrow failure or head/neck squamous cell carcinoma (HNSCC) should also have chromosome breakage testing of blood (and skin, if indicated) to rule out Fanconi anemia. Family history may be helpful if it is present, but many patients do not have affected relatives due to variable disease penetrance, expressivity, and/or genetic anticipation. Classic dyskeratosis congenita (DC) includes the mucocutaneous triad; Hoyeraal-Hreidarsson syndrome includes features of DC and cerebellar hypoplasia, immunodeficiency; Revesz syndrome includes exudative retinopathy, intrauterine growth restriction, intracranial calcifications as well as DC features; Coats plus has features of DC, exudative retinopathy, GI bleeding, and bone abnormalities. Figure adapted from [Citation16].
![Figure 1. Telomere length and mode(s) of inheritance usually present in telomere biology disorders (TBDs). Telomere length testing should be considered for all patients with the indications shown. All patients with bone marrow failure or head/neck squamous cell carcinoma (HNSCC) should also have chromosome breakage testing of blood (and skin, if indicated) to rule out Fanconi anemia. Family history may be helpful if it is present, but many patients do not have affected relatives due to variable disease penetrance, expressivity, and/or genetic anticipation. Classic dyskeratosis congenita (DC) includes the mucocutaneous triad; Hoyeraal-Hreidarsson syndrome includes features of DC and cerebellar hypoplasia, immunodeficiency; Revesz syndrome includes exudative retinopathy, intrauterine growth restriction, intracranial calcifications as well as DC features; Coats plus has features of DC, exudative retinopathy, GI bleeding, and bone abnormalities. Figure adapted from [Citation16].](/cms/asset/f9f57901-bd2e-401a-87c7-b36dc97f15a5/ierr_a_2215423_f0001_oc.jpg)