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20 Cards in this Set
- Front
- Back
Neurofibromatosis 1 CNS
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Optic Nerve Gliomas
Non-neoplastic Spongiform Changes (Basal Ganglia, White Matter) Intra-axial Gliomas Neurofibromas of Exiting Nerves Dural Ectasia (Posterior Vertebral Body Scalloping) Low Grade Cord Astrocytomas |
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Neurofibromatosis 1 MSK
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Sphenoid Wing Dysplasia
Ribbon Ribs Scoliosis Hypoplasia or Aplasia of Pedicles Posterior Vertebral Body Scalloping Focal Gigantism Tibial Bowing/ Pseudoarthrosis Multiple Non-ossifying Fibromas |
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Neurofibromatosis 2
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M.I.S.M.E.
Multiple Inherited Bilateral Vestibular Schwannomas Meningiomas Ependymomas (Spinal Cord) |
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Von Hippel-Lindau
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Cerebellar Hemangioblastoma
(+ Retinal, Spinal Cord Hemangioblastoma) Renal Cell Carcinoma Adrenal Pheochromocytoma Cysts: Renal, Pancreatic, Hepatic, Epididymal Microcystic Adenoma of Pancreas |
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Tuberous Sclerosis
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Cortical Tubers (Hamartomas)
Subependymal Nodules Subependymal Giant Cell Astrocytoma Renal Angiomyolipomas Renal Cysts Cardiac Rhabdomyoma Lymphangiomyomatosis Bone Islands (Like Pedicles)Seizures Retardation Adenoma Sebaceum |
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Sturge-Weber-Dimitri
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Associated with Dyke-Davidoff-Masson
Leptomeningeal Venous Angiomas Tramtrack Cortical Calcifications Atrophic Cortex Enlarged Ipsilateral Choroid Plexus Seizures Retardation Port-Wine Nevus |
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Beckwith-Weidemann
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Macroglossia
Visceromegaly Gigantism Omphalocele Wilms Tumor/ Nephroblastomatosis |
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Meckel-Gruber
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Bilateral Renal Cystic Disease (MCDK)
Occipital Encephalocele Polydactaly |
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Trisomy 21 (Down’s Syndrome)
Prenatal US |
CHD (Endocardial Cushion Defect, VSD, ASD)<br />Duodenal Atresia<br />Nuchal Translucency<br />Nuchal Thickening<br />Cystic Hygroma<br />Pyelectasis<br />Echogenic Intracardiac Focus<br />Short Femur/ Humerus<br />Hyperechoic Bowel (Non-specific)
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Trisomy 18
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Edward Syndrome
Clenched Hand with Overlapping 2nd and 3rd Fingers Rocker Bottom Feet Choroid Plexus Cyst Strawberry-Shaped Skull Congenital Heart Dz Omphalocele Diaphragmatic Hernia IUGR Single Umbilical Artery Micrognathia and Low Ears Polyhydramnios |
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Trisomy 13
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Patau’s Syndrome
CHD Holoprosencephaly Hypotelorism Polydactaly IUGR GU Anomalies |
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Dyke-Davidoff-Masson
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Cortical Calcification
Lobar Atrophy Skull Thickening Sinus Enlargement |
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Down’s Syndrome
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Duodenal Atresia
Tracheoesophageal Fistula/ Esophageal Atresia Endocardial Cushion Defect Hirschsprung’s Dz Atlantoaxial Subluxation Multiple Sternal Ossification Centers 11 Ribs Flaring of Iliac Wings |
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William’s Syndrome
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Aortic Stenosis (Supravalvular)
Peripheral Pulmonic Stenosis Diffuse Coarctation of Abdominal Aorta Stenosis of Visceral aortic Branches Dentation Abnormalities |
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Carney Syndrome
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Gastric Leiomyosarcoma
Extraadrenal Paraganglioma Pulmonary Chondroma |
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VACTERL
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Vertebral Anomalies
Analrectal Malformations Cardiac Dz Tracheo- Esophageal Fistula Renal Agenesis/ Dysgenesis Limb (Radial Hypoplasia) Duodenal Atresia |
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Chiari II
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Small Posterior Fossa with Tonsilar Herniation (>5mm)
Medullary Kinking Tectal Beaking Towering Cerebellum Enlarged Massa Intermedia Hydrocephalus Luckenschadel Skull Myelomeningocele |
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MEN 1
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PPP
Pituitary Adenoma Parathyroid Hyperplasia Pancreatic Islet Cell Tumors ACTH-Induced Adrenal Adenomas Thyroid Adenoma |
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MEN 2
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PMP
Parathyroid Adenoma Medullary Thyroid Carcinoma Pheochromocytoma |
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MEN 3
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MPM
Medullary Thyroid Carcinoma Pheochromocytoma Mucosal Neuromas of Small Bowel |