A 2-year-old boy has hepatosplenomegaly, developmental regression, and hypotonia. Fundoscopy reveals a cherry-red macula. 

Which of the following enzyme is deficient?

Which of the following Glycogen Storage Diseases is primarily associated with cardiomegaly and early death if untreated?

During dental examination, a patient with confirmed Marfan Syndrome is noted to have a high-arched palate and dental crowding. What is the most important precaution the dentist should take before initiating treatment?

A patient with known Ehlers-Danlos Syndrome presents for tooth extraction. What is the most important precaution the dentist should consider?

Which of the following physical findings and oral manifestations is most characteristic of Down Syndrome?

A 24-year-old male is evaluated for infertility. He is tall, has sparse facial hair, and small, firm testes. Lab studies show low testosterone and high FSH/LH.

What is the most likely diagnosis?

Which of the following is the most characteristic facial feature of Treacher Collins Syndrome?

A 6-month-old infant presents with progressive neurodegeneration, cherry-red spot on macula, and no hepatosplenomegaly. Which of the following enzymes is deficient?

A 6-month-old infant is brought in for lethargy, seizures, and doll-like facies. Labs show severe fasting hypoglycemia, elevated lactate, triglycerides, and uric acid.

What is the most likely diagnosis?

Which of the following is not typically associated with a trisomy condition?