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A 10 year old boy with autism, macrocephaly, and multiple lipomas was referred for genetic evaluation and you have established the diagnosis. One of the parents is also affected. What is the next step?
Your patient reports a history of frequent nosebleeds and the same in many of his relatives, as well as the unexplained sudden death of his 12-year-old brother.
A female infant is referred for evaluation of a hemagioma of 1 cm diameter on right shoulder. Which of the following statements is true?
Your patient, a 22-year-old male with Proteus diagnosis that fulfills the clinical criteria, wants to father a child. The genetic counseling should include the following:
A 10-year-old boy with autism, macrocephaly, and multiple lipomas was referred for genetic evaluation and you have established the diagnosis. What is the next step?
A 10-year-old boy with autism, macrocephaly, and multiple lipomas is referred for genetic evaluation. What is the first step?
The patient has many blue-colored and easily compressible skin macules. What is the next step in the evaluation?
What is the next step in the evaluation of a baby with a facial port wine stain and glaucoma?
Why do we study the genetics of non-syndromic (isolated) vascular anomalies?