Linda Nicholson

TL;DR: Mutation analysis was performed in 34 North American and 6 European patients with Costello syndrome and detected missense mutations in HRAS in 33 (82.5%) patients, with all mutations affected either codon 12 or 13 of the protein product.

TL;DR: The results suggest that the Ehlers-Danlos variant of periventricular heterotopia (PH), in part, represents an overlapping syndrome with X-linked dominant PH due to filamin A mutations.

TL;DR: A screening protocol consisting of ultrasound examination of the abdomen and pelvis every 3-6 months until age 8-10 years for RMS and abdominal neuroblastoma; urine catecholamine metabolite analysis every 6-12 months untilAge 5 years for neuroblastomas; and urinalysis for hematuria annually for bladder carcinoma after age 10 years is proposed.

TL;DR: All patients with Costello syndrome need a baseline cardiology evaluation with echocardiography and Holter monitoring, and additional prospective evaluations, even in patients without apparent cardiac abnormalities, would be prudent, although data are insufficient to propose a specific schedule.

TL;DR: It is suggested that patients with BRAF and MEK mutations should be diagnosed with CFC syndrome, and the diagnosis of Costello syndrome be reserved for patients with HRAS mutations.