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Child with stroke, marfanoid habits, fair hair and eyes, and developmental delay. Dx? Tx?

A) Neurofibromatosis, Supportive care
B) Marfan syndrome, Surgical intervention
C) Ehlers-Danlos syndrome, Physical therapy
D) Homocystinuria, Anticoagulation

User Deathfry
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1 Answer

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Final answer:

The child's symptoms are consistent with Marfan syndrome, a genetic disorder characterized by abnormalities in connective tissue. Treatment involves a multidisciplinary approach, including regular follow-up visits with specialists and possible surgical intervention.

Step-by-step explanation:

The child in question displays several features that suggest a possible diagnosis of Marfan syndrome. Marfan syndrome is a genetic disorder characterized by abnormalities in connective tissue, including the cardiovascular, skeletal, and ocular systems. Along with marfanoid habits (such as tall stature and long limbs), fair hair and eyes, and developmental delay, children with Marfan syndrome may also have cardiovascular complications, such as aortic dilation, and orthopedic issues, like scoliosis.

Treatment for Marfan syndrome includes a multidisciplinary approach that focuses on managing and treating the various symptoms associated with the condition. Regular follow-up visits with a team of specialists, such as a cardiologist, orthopedic surgeon, and ophthalmologist, are crucial for monitoring the child's health and addressing any complications that may arise. Medications may be prescribed to manage cardiovascular symptoms, and surgical intervention may be necessary in some cases, particularly to repair aortic aneurysms. Other interventions, such as physical therapy and occupational therapy, may also be recommended to address developmental delay and promote optimal functioning.

User Navya
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