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

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?

A) Down syndrome mosaicism
B) Ehlers-Danlos syndrome
C) Fragile X syndrome
D) Klinefelter syndrome
E) Marfan syndrome
F) Prader-Willi syndrome

Correct Answer:

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