Combo with "ABGC Boards" and 12 others | Q&A Latest Update 2024/2025 | 100% PASS

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Combo with "ABGC Boards" and 12 others | Q&A Latest Update 2024/2025 | 100% PASS

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Combo with "ABGC Boards" and 12 others | Q&A Latest Update 2024/2025 | 100% PASS What heart defects can be seen in Noonan syndrome? - Answer - Pulmonary valve stenosis and hypertrophic cardiomyopathy What syndrome is associated with dysmorphic facies, short stature, cryptorchidism, renal malformations, scoliosis, lymphedema, hematological disorders? - Answer -Noonan syndrome What genes are associated with HHT? - Answer -ACVRL1, ENG, SMAD4 What percentage of Tuberous Sclerosis is de novo? - Answer -2/3 What major systems are affected by Tuberous Sclerosis? - Answer -Skin, CNS, Renal, Lung, Heart and Eye Prenatal ultrasound suggestive of Tuberous Sclerosis? - Answer - Rhabdomyoma Skin features of Tuberous Sclerosis? - Answer -Facial angiofibroma, shagreen and ungual fibromata What syndrome is characterized by microcephaly, beaked nose, broad thumbs and toes, sleep apnea and strabimus - Answer -Rubenstein Taybi Triploidy accounts for what percentages of SABs? - Answer -6-10%Paternal triploidy results in? - Answer -Hydrophic large placenta, moderate IUGR, normal or microcephalic head What condition is associated with mal

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Uploaded on: January 13, 2025
Number of pages: 38
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Type: Exam (elaborations)
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Combo with "ABGC Boards" and 12 others | Q&A Latest Update 2024/2025 | 100% PASS

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