A 16-year-old boy with mild intellectual disability is brought to the office to be evaluated for attention deficit-hyperactivity disorder. The parents state that he has always been impulsive and inattentive and that teachers are concerned about his inattentiveness and poor grades. Review of medical records shows a history of gross motor and speech delay for which he received physical and speech therapies during childhood. On physical examination, the boy has a long and narrow face, a prominent mandible, and large testes. There is hyperlaxity of his finger and thumb joints. Which of the following is the most likely diagnosis in this patient?

Question

A 16-year-old boy with mild intellectual disability is brought to the office to be evaluated for attention deficit-hyperactivity disorder.  The parents state that he has always been impulsive and inattentive and that teachers are concerned about his inattentiveness and poor grades.  Review of medical records shows a history of gross motor and speech delay for which he received physical and speech therapies during childhood.  On physical examination, the boy has a long and narrow face, a prominent mandible, and large testes.  There is hyperlaxity of his finger and thumb joints.  Which of the following is the most likely diagnosis in this patient?

Quizplus · Accepted Answer

Eductional Objective: Fragile X syndrome is an X-linked disorder that presents with a long, narrow face, a prominent chin and forehead, and large testes.  Patients often have developmental delay and neuropsychiatric findings that overlap with anxiety disorders, autism, and attention deficit-hyperactivity disorder.

A 16-Year-Old Boy with Mild Intellectual Disability Is Brought to the Office