Genetic Disease and Syndromes
Playlist contributed by
Audrey Lim
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Playlist with hidden diagnosis
Full screen playlist with hidden diagnosis
Playlist information
Playlist created:
21 Mar 2022 by
Audrey Lim
Last edited:
23 Mar 2022
Number of cases:
26
Number of slides:
0
rID:
145587
Systems:
Cardiac
,
Central Nervous System
,
Chest
,
Gastrointestinal
,
Haematology
,
Head & Neck
,
Hepatobiliary
,
Musculoskeletal
,
Obstetrics
,
Oncology
,
Paediatrics
,
Spine
,
Urogenital
,
Vascular
Visibility:
public
Show case titles
Case 1
Marfan syndrome - ascending aorta aneurysm
Case 2
Marfan syndrome - ascending aorta aneurysm
Case 3
Gaucher disease - adult
Case 4
Gaucher's disease - splenic Gaucheroma
Case 5
Neurofibromatosis type 1
Case 6
Neurofibromatosis type 1 - ulnar pseudoarthrosis
Case 7
Neurofibromatosis type 1 with pedunculated neurofibromas
Case 8
Neurofibromatosis type 2
Case 9
Ependymoma
Case 10
Acoustic schwannoma (recurrent)
Case 11
Optic pathway glioma - NF1
Case 12
Esophageal atresia
Case 13
Omphalocoele
Case 14
Down syndrome - "mickey mouse" pelvis
Case 15
Atrioventricular septal defect
Case 16
Cystic hygroma (Turner's syndrome)
Case 17
Turner syndrome - hand
Case 18
Hemangioblastoma: von Hippel-Lindau syndrome
Case 19
Von Hippel Lindau - pancreatic cysts
Case 20
Von Hippel-Lindau disease - bilateral pheochromocytomas
Case 21
Von Hippel-Lindau syndrome - renal manifestations
Case 22
Tuberous sclerosis
Case 23
Angiomyolipoma
Case 24
Tuberous sclerosis
Case 25
Lymphangioleiomyomatosis and tuberous sclerosis
Case 26
Tuberous sclerosis