Review Question - QID 214474

A 3-month-old boy is brought in by his mother due to concerns about his head shape. The mother has a history of Crouzon syndrome, and states that her father is also affected. Her father was adopted, and she does not know any further family history from his side. The patient’s mother has 2 sisters, neither of whom are affected. The patient’s father is not affected. The mother believes that her son also has Crouzon syndrome, and would like to pursue surgical management. On exam, his temperature is 98.3°F (36.8°C), blood pressure is 104/68 mmHg, pulse is 84/min, and respirations are 14/min. The patient is brachycephalic with wide-set, proptotic eyes and a deficient midface. The mother is concerned about the chances of her son passing it down to his children. Given that Crouzon syndrome results from a mutation leading to overactive signaling of the FGFR2 protein, which of the following is the best answer for the mother?