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Excerpt
We read with interest the article by Bisogno et al. (1). However, we suspect that the child described in the article had Costello syndrome and not Cardio–Facio–Cutaneous (CFC) syndrome.
As the authors themselves indicate, Costello syndrome bears some phenotypic similarity to both Noonan and CFC syndrome (1). However, Costello syndrome does appear to have a unique, recognizable phenotype that has been recently reviewed (2). The infant in the report has a number of features consistent with the diagnosis of Costello syndrome including large birth weight with subsequent failure to thrive, relative macrocephaly, loose skin on the hands and feet, curly hair, down-slanting palpebral fissures, epicanthal folds, and thick lips. Congenital heart disease, including pulmonary stenosis, has been reported in Costello syndrome.
There have now been a number of cases of rhabdomyosarcoma and Costello syndrome in the literature (3–5). The risk for other tumors in Costello syndrome (including bladder cancer) has also been recognized (6). The mode of inheritance and the possible cause of Costello syndrome are not yet well-understood (2). Potential causative mechanisms include mutations controlling a gene important in metabolism or a tumor suppressor gene.
We think this case provides an excellent opportunity to underscore the significant risk for rhabdomyosarcoma and other tumors in Costello syndrome. It is less certain whether these tumors are overrepresented in CFC and other Noonan-like syndromes.
