All differentials Flashcards

Question

Bleeding diathesis/platelet dysfn/easy bruising

Answer 1

``` Hemophilia von Willebrand Noonan Wiskott-Aldrich Jacobsen Hereditary hemorrhagic telangiectasia Hermansky Pudluk Ehlers Danlos syndrome (IV) Vit K receptor Def ```

Answer 2

``` Schwartz-Jampel Fetal alcohol syndrome Freeman-Sheldon Dubowitz Marden Walker COFS/Cockayne Ohdo syndrome Blepharophimosis ptosis epicanthus inversus ```

Answer 3

``` Fanconi Anemia Diamond-Blackfan Shwachman-Diamond Dyskeratosis congenita severe congenital neutropenia Thrombocytopenia absent radii amegakaryocytic thrombocytopenia Osteopetrosis ```

Answer 4

``` BRCA1 BRCA2 p53 (Li-Fraumeni) PTEN STK11/LKB1 (Peutz-Jeghers) E-cadherin (lobular) Klinefelter Bloom AT heterozygotes NF1 CHEK2 BRIP1 PALB2 ```

Answer 5

Gail BRCApro IBIS Bodecia

Answer 6

``` Pfeiffer Rubinstein-Taybi Oto-Palatal Digital Saethre-Chotzen Brachydactyly D, E LADD (lacrimo-auriculo-dental-digital syndrome) Robinow ```

Answer 7

``` Cerebral Autosomal Dominant Arteriopathy Subcortical Infarcts Leukoencephalopathy ```

Answer 8

``` Neurofibromatosis 1 Neurofibromatosis 2 Tuberous Sclerosis Russell-Silver McCune-Albright LEOPARD (Lentigines EKG abnormalities Ocular hypertelorism Pulmonic stenosis Abnormalities of genitalia Retardation of growth Deafness) Nonnan-NF1 Fanconi Anemia AD café-au-lait spots ```

Answer 9

``` Sturge Weber Porphyria Cutanea Tarda Tuberous Sclerosis Cockayne Werner Cytomegalovirus Toxoplamosis ```

Answer 10

Gorlin PXE (Pseudoxathoma elasticum) Hyperparathyroid Vit D intoxication

Answer 11

``` Burkitt Lymphoma t(8;14) C-myc-IgH CML t(9;22)(q34;q11) C-abl -breakage cluster region Neuroblastoma (del 1p) Retinoblastoma (del 13q14) Meningioma (-22) ```

Answer 12

``` Beckwith-Wiedemann Fanconi Anemia Gorlin WAGR Down Syndrome Sotos Bloom Cowden Cockayne Werner Rubenstein-Taybi Klinefelter Fraser 45X/46XY (gonadoblastoma) ```

Answer 13

``` Medical Expert (the integrating role) Communicator Collaborator Leader Health Advocate Scholar Professional ```

Answer 14

TSC (rhabdomyoma) Carney (myxoma) Gorlin (fibroma)

Answer 15

KRAS BRAF MEK1 MEK2

Answer 16

FAOD Mitochondrial Barth

Answer 17

Duchenne musclar dystrophy Emery Dreifuss muscular dystrophy Limb Girdle muscular dystrophy Myotonic Dystrophy (more commonly arrhythmia) Kearns Sayre MERRF (myoclonic epilepsy with ragged red fibres) MELAS (Metabolic Encephalopathy Lactic Acidosis Stroke) LCHAD

Answer 18

``` LCHAD Mucopolysaccaridosis Fabry's disease GSD (esp Pompe) Noonan Freidrich's Ataxia FHC (Familial Hypertrophic Cardiomyopathy) ```

Answer 19

``` Hemochromatosis Endocard fibroelastosis Fabry Refsum Pseudoxanthoma elasticum ```

Answer 20

``` Myotonic Dystrophy Stickler Conradi-Hunermann Pseudohypoparathyroidism AD cataracts ```

Answer 21

``` Rubella Hallerman-Streif Zellweger Lowe Chromosomal (Down S) Marinesco Sjogren COFS/Cockayne Galactosemia Galactokinase deficiency sulfite-oxidase deficiency molybdenum cofactor deficiency ```

Answer 22

``` temporal strength biologic gradient consistency plausibility coherance experiment analogy ```

Answer 23

``` hyperkalemic periodic paralysis myotonia fluctuans paramyotonia congenita long QT 3 Episodic Ataxia 2 familial hemiplegic migraine Congen Stationary night Blind hypokalemic periodic paralysis malig hyperthermia ```

Answer 24

``` Coloboma Heart Atresia choanae Retarded growth/develop Genital Ear ```

Answer 25

``` gm1 gangliosidosis Niemann-Pick 1a Tay Sachs (GM2 Gangliosidosis) Sandhoff (GM2 Gangliosidosis) Sialidosis Krabbe (sometimes) ```

Answer 26

Congenital Hemidysplasia Ichthyosisform Erythroderma Limb defects

Answer 27

``` Antley Bixler CHARGE Lenz Majewski Apert Crouzon Saethe Chotzen Pfeiffer ```

Answer 28

``` Alagille Alpha-1 antitrypsin deficiency ARC Byler Zellweger Cystic fibrosis ```

Answer 29

``` Antley Bixler Greenberg Dysplasia CHILD Lathosterolosis Smith-Lemli-Opitz Desmosterolosis CDPX2 steroid sulfatase deficiency congenital adrenal hyperplasia ```

Answer 30

``` Alpha thalassemia X-linked retardation Rett ICF syndrome (immunodeficiency, centromeric instability and facial anomalies) Rubinstein-Taybi Floating Harbour Coffin-Lowry ```

Answer 31

``` Ataxia telangiectasia Xeroderma pigmentosum Cockayne Fanconi anemia Bloom syndrome Nijmegen breakage syndrome ```

Answer 32

``` Q G R NOR C (centromeric) DAPI ```

Answer 33

``` Bardet Biedl Kartagener Polycystin kidney disease Senior-Loken Joubert OFD1 Meckel ```

Answer 34

``` Alpha-1 antitrypsin Hemochromatosis Ethanol abuse Wilson's Tyrosinemia Galactosemia Berardinelli Lipodystrophy ```

Answer 35

``` Trisomy 13 Dilantin Van der Woude Ectrodactyly and ectodermal dysplasia Roberts ```

Answer 36

``` Cleft palate ankylglossia (XLR) Shprintzen Oto-palatal digital Stickler Accutane Nager 22q11 DS ```

Answer 37

``` T18 Bowen-Conradi Congenital Myotonic Dystrophy Diastrophic Dysplasia Amyoplasia Spina Bifida Aminopterin ```

Answer 38

``` Cerebellar hypoplasia Oligophrenia Ataxia Coloboma Hepatic Fibrosis ```

Answer 39

``` Prothrombin 20210 Protein C deficiency Protein S deficiency factor 5 leiden Antithrombin 3 ```

Answer 40

``` hypothyroid Mucopolysaccaridosis Mucolipidosis Coffin-Siris Coffin-Lowry Fryns Pallister-Killian Williams Rasopathies Nicolaides-Baraitser ```

Answer 41

``` CHARGE cat-eye Aniridia -Wilms T13 Triploidy Walker-Warburg ```

Answer 42

``` Familial adenomatosis polyposis HNPCC/Lynch syndrome Li-Fraumeni syndrome Peutz-Jeghers Cowden Juvenile polyposis ```

Answer 43

``` Holt-Oram (ASD) Down Syndrome. (Endocardial cushion defect) Digeorge (interrupted aortic arch) Noonan (Pulmonary Stenosis) Turner (Coarctation of aorta) William (supravalvular aortic stenosis) Alagille (Pulmonary artery stenosis) ```

Answer 44

``` Truncus Arteriosus Tetralogy of Fallot Interupted Aortic Arch B Conotruncal VSD Double outlet Right ventricle transposition of great vessels Pulm atresia + VSD ```

Answer 45

``` PWS/Angelman (15q12) Miller-Dieker (17p13) Digeorge/VCF (22q11) Beckwith-Wiedemann (11p15) Trichorhinophalangeal (8q24) Retinoblastoma (13q) Smith Magenis (17p11) Williams (7p) TSC2 and ADPKD1 (16p) ATRX (16p) Jacobsen(11q) Kleefstra (9q) 1p36 deletion syndrome Phelan-McDermid (22q13) ```

Answer 46

``` Distal Arthrogryposis/Freeman Sheldon Escobar (multiple pterygium) Amyoplasia COFS/Cockayne Trisomy 8 mosaic Antley Bixler Beals Emery Dreifuss T18 ```

Answer 47

``` Hurler (MPS I) Scheie (MPS I) Steroid Sulfatase defn cystinosis Maroteaux Lamy a-Mannosidosis I Cell disease Fryns syndrome CMV MPS I, V, VI, Pelizaeus-Merzbacher Fabry ```

Answer 48

``` Crouzon (FGFR2) Pfeiffer (FGFR1/2) Apert (FGFR2) Carpenter (RAB23) Jackson-Weiss (FGFR2) Saethe-Chotzen TWIST Meunke(FGFR3) Beare-Stevenson (FGFR2) Antley-Bixler (FGFR2 and POR) Shprintzen Goldberg (SKI) Baller-Gerold (RECQL4) ```

Answer 49

Oxycephaly = acrocephaly = generalized = pointed head Plagiocephaly = unilateral coronal or lambdoid Trigonocephaly = metopic Scaphocephaly = dolicocephaly = saggital, long narrow skull Brachycephaly=coronal

Answer 50

``` HARD-E hydrocephalus, agyria, and retinal dysplasia with or without encephalocele = Walker Warburg Meckel-Gruber Fraser Aicardi CMV ```

Answer 51

``` Usher Waardenberg Alport Albinism-Deafness Perrault (ovarian dysgenesis) Jervell-Nielsen with long QT (AR) Noonan, LEOPARD Cat-eye Treacher collins Townes-Brocks Alstrom ```

Answer 52

``` Increased intercranial pressure hypophosphatasia Cleidocranial dysplasia hypothyroid Down S Dilantin OPD-II ```

Answer 53

``` Hemochromatosis DIDMOAD (Diabetes Insipidous Diabetes Melitis Optic Atrophy Deafness - aka Wolfram) Klinefelter Prader Willi Cystic fibrosis Polyendocrine autoimmune (AR or AD) Maturity onset diabetes of the young Myotonic Dystrophy Friedrich's Ataxia Mitochondrial Transient Neonatal Diabetes (UPD6) Alstrom ```

Answer 54

``` Fryns Cornelia De Lange Beckwith Weidemann CHARGE Triploidy Denys-Drash Pallister-Killian Simpson -Golabi-Behmel Wolf-Hirschorn Donnai-Barrow ```

Answer 55

a) Double: AFP+HCG b) Triple:a)+e3 c) Quad:b+Inhibin A d) Combined:NT+PAPP-A e) Serum integrated:c)+PAPP-A f) Integrated:f+NT g) Sequential:CVS if 1st T=high h) contingent 1st T -> high(CVS),med(2T),low(no 2T)

Answer 56

``` Branchio-oto-renal Goldenhar Cat-Eye Wolf Hirschhorn Cri du Chat Kabuki Treacher Collins ```

Answer 57

``` Goldenhar Townes Brock Cat Eye Del 4p Del 5p ```

Answer 58

Homocystinuria Sulfite Oxidase Def Marfan Auto Dom Ectop Lentis

Answer 59

``` Classical Hypermobility Vascular Kyphoscoliosis Arthrocalasia Dermatospraxis ```

Answer 60

``` Romano Ward (AD increased QT) Jervell-Nielsen (AR, increased QT, deaf) Wolf Parkinson White (AD) Hypertrophic Cardiomyopathy with Wolf Parkinson White Kearns-Sayre Holt-Oram (conduction defects) ARVC (PKP2) CPVT (RYR2/CASQ2) McCune Albright (Tachy) Costello (Tachy) M-CAP (arrhythmia) Ulnar-Mammary (arrhythmia) ```

Answer 61

``` Meckel Gruber Walker-Warburg (HARD-E) Roberts Goldenhar Frontonasal dysplasia Pallister Hall Joubert ```

Answer 62

Boomerang dysplasia Roberts Currarino Frontonasal dysplasia sequence

Answer 63

``` Rhizomelic Chondrodysplasia punctata Zellweger Warfarin CHILD X-linked chondrodysplasia punctata I and II Acrodysostosis Smith Lemli Opitz Vit K receptor defect ```

Answer 64

``` Wilson Cystic fibrosis Gaucher type 1+3 Beradinelli Lipodystrophy GSD IV ```

Answer 65

``` Anencephaly T18 Smith Lemli Optiz X-linked icthyosis, steroid sulfatase deficiency X- linked adrenal hypoplasia Intrauterine fetal demise Antley-Bixler Greenberg ```

Answer 66

beneficience non-malificience autonomy justice

Answer 67

``` Cystic fibrosis Schwachman-Diamond Pearson Johanson Blizzard Albright Hereditary osteodystrophy ```

Answer 68

``` Cystinosis Galactosemia Tyrosinemia Fructose intolerance Wilson ```

Answer 69

``` Rett Incontineti Pigmenti Hypomelanosis of Ito Goltz T18 Cleft palate Kippel-Feil Turner Currarino ```

Answer 70

1 Pfeiffer 2 Apert, Cruzon, Jackson-Weiss, Pfeiffer, Beare-Stevenson, Antley-Bixler 3 Meunke, Cruzon with Acanthosis nigricans, achondroplasia, hypocondroplasia, thanatophoric dysplasia, SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans)

Answer 71

CDH1 (diffuse gastric ca) | HNPCC/Lynch

Answer 72

``` Cystic Fibrosis (adenovirus->resp tract) ADA defeciency (retrovirus->lymphocytes) Fam. Hypercholesterolemia (retrovirus->hepatocyte) Lesch-Nyhan DMD (retrovirus & myoblast) Gaucher (retrovirus->heme stem cell) ```

Answer 73

``` transfection (precip over cult cells) protoplast fusion electroporesis microinjection retroviral DNA viral ```

Answer 74

Pallister-Hall Greig cephalopolysyndactily AD polydactyly Curry-Jones

Answer 75

``` 1a Von Gierke (G6phosphatase) 1b (G6phosphate translocase) 2 Pompe (1,4,Glucosidase) 3 Cori (Debranching) 4 Anderson (branching) 5 McCardle (Muscle Phosphorylase) 6 Hers (Liver Phosphorylase) 7 Tauri (Muscle Phosphofructokinase) 9 (Phosphorylase Kinase) 0 (Hepatic Glycogen Synthase) ```

Answer 76

``` hydrocephalus Agyria Retinal Detachment Encephalocele =Walker-Warburg ```

Answer 77

``` random mating large population few mutations little migration little selection ```

Answer 78

``` Down syndrome del 13 Neurofibromatosis 1 MEN2 Waardenburg Cartilage hair Mowat-Wilson Congenital central hypoventilation syndrome (PHOX2B) ```

Answer 79

``` MLH1 MSH2 MSH6 PMS2 EPCAM ```

Answer 80

``` Trisomy 13 Meckel-Gruber diabetes 13q- 18p- Non syndromic = Sonic Hedgehog pathway ```

Answer 81

Schizencephaly (EMX2) Waardenburg (PAX3) Aniridia (PAX6) Coloboma-Renal Anomalies) (PAX2)

Answer 82

``` CPT1 Cystic fibrosis Bowen Conradi LGMD2H & 2I dilated cardiomyopathy ataxia VLDLR associated cerebellar hypoplasia Joubert/Meckel ```

Answer 83

``` Environment (Torch, Accutane, Meningitis) AD (Achondroplasia,Thanatophoric) AR (Walker-Warburg, hydrolethalus) XLR hydrocephalus (aqueduct stenosis) T21 ```

Answer 84

``` Transient (eg premature/respiratory distress syndrome) organic aciduria OTC (hi citrulline & orotate) CPS (hi citrulline, low orotate) AL (slight hi citrulline) AS (very hi citrulline) Fatty acid oxidation defect Mitochondrial ```

Answer 85

``` Birth control pill Anti-thrombin 3 Protein C Protein S Prothrombin G20210A C677T MTHFR Factor V Leiden ```

Answer 86

``` Transient (premature,transient tyrosine,galatosemia,liver disease) Classical (>20) Atypical (12-20) Mild (<12) Pterin Defect ```

Answer 87

``` CL+P sequence Aarskog Robinow Hypertelorism-Hypospadias Waardenburg Dilantin Optiz G/BB Loeys-Dietz OFD Craniofrontonasal Frontonasal dysplasia ```

Answer 88

DiGeorge transient decreased PTH secondary to maternal increased PTH

Answer 89

``` Hypohydrotic Ectodermal Dysplasia Ellis Van Crevald Goltz Aarskog Incontinentia Pigmenti Coffin Lowry Ectrodactyly ectodermal dysplasia Tricho-dento-osseous Axenfeld-Reiger Van der Woude LADD (lacrimo-auriculo-dento-digital syndrome) ```

Answer 90

``` Beckwith Wiedemann Glycogen Storage 1,3 Diabetic mother IUGR MSUD Fatty Acid Oxidation Defects Sepsis b-blockers panhypopituitarism GH deficiency Isolated Hyperinsulinism Hyperinsulinism related to Nesidioblastosis Ketogenesis (HMG CoA lyase/synthase) Ketolysis (Beta-ketothiolase) ```

Answer 91

Maternal diabetes Beckwith Weidemann IUGR Hyperinsulinism

Answer 92

``` Congenital Muscular Dystrophies, EDS VI Prader Willi syndrome Zellweger Spinal muscular atrophy Congen Myotonic Dystrophy FG Pompe ```

Answer 93

Immunodeficiency Centromeric instability Facial anomalies

Answer 94

``` X-linked (Steroid Sulfatase) Sjogren-Larson (AR,+MR,diplegia) Vulgaris Lamellar Congenital Ichthyosiform Erthroderma (CHILD) Senter-Kid Neu-Laxova ```

Answer 95

``` DiGeorge Ataxia telangiectasia Wiskott Aldrich Adenosine deaminase deficiency Bloom del 18q Chediak Higashi Griscelli SIDS ```

Answer 96

``` Cat eye T18 Towns Brock VACTERL FG OEIS Baller Gerold Johanson Blizzard Pallister-Hall Sirenomelia Meckle-Gruber Thanatophoric Dysplasia 1p36 del Walker-Warburg Opitz G ```

Answer 97

pronuclear mice experiments triploids UPD eg IUGR in CF Syndromes PWS and AS

Answer 98

``` Phenylketonuria Non-ketotic hyperglycinemia Aicardi Tuberous Sclerosis Sturge Weber COFS/Cockayne Hypomelanosis of Ito 1p36 deletion ```

Answer 99

``` ADPKD Ehlers Danlos 1, 6 Neurofibromatosis Marfan Loeys Dietz ```

Answer 100

``` Tay-Sachs Canavan Dysautonomia Bloom Gaucher Fanconi C GSD 1a Mucolipidosis 4 Niemann Pick A &B ```

Answer 101

(XL -hydrocephalus) MASA SPG1 (XL spastic paraplegia 1) XL Corpus Callosum agenesis

Answer 102

``` decreased Oxygen/perfusion/seizure Fatty acid Organic acidemia Ox/Phos (mitochondrial) Decrease gluconeogenesis (GSD) ```

Answer 103

``` Emery-Dreifuss AD/AR Limb Girdle muscular dystrophy 1B Dilated cardiomyopathy with conduction defect partial lipodystrophy Progeria Restrictive Dermopathy CMT2 ```

Answer 104

``` Lentingines EKG abnormal Ocular anomalies Pulmonic Stenosis Abnormal genitalia Retardation growth Deafness ```

Answer 105

``` thanatophoric homozygous achondroplasia greenberg lethal chondrodystrophy achondrogenesis Osteogenesis imperfecta II Infantile Hypophosphatasia ```

Answer 106

``` Metachromatic leukodystrophy Krabbe Pelizaeus-Merzbacher Neonatal adrenoleukodystrophy X-linked adreno/X-linked adenomyeloneruopathy ```

Answer 107

Amniotic band Adams Oliver Cornelia de Lange Poland/Moebius syndrome

Answer 108

``` Miller Dieker Walker-Warburg Isolated lissencephaly X-linked lissencephaly (double cortin) Neu Laxova Fukuyama Myotonic dystrophy CMV Aicardi syndrome (polymicrogyria) ```

Answer 109

``` Membrane transort defect (Cystinosis) MPS (eg Hunter/Hurler) Lipidosis (Mucolipidosis) Spingolipidosis (Fabry/TaySachs/Gaucher) Glycoproteinosis (oligosaccharidoses) ```

Answer 110

``` hydrocephalus fragile X neurofibromatosis familial benign megancephaly Sotos Cowden/Banayan-Riley -Ruvalcaba Gorlin Cranio-cleidal dysostosis Storage (MPS2) Proteus ```

Answer 111

``` Ychromosome->SRY SRY->testes Testes->Testosterone + MIF Testoserone via 5alpha reductase to DHT androgen receptor ```

Answer 112

``` Gonadal dysgenesis (del y, 45X/46/XY) 5-alpha-reductase deficiency Androgen insensitivity decrease testosterone synthesis (eg 17-beta hydroxysteroid dehydrogenase deficiency) ```

Answer 113

``` Duchenne Muscular dystrophy Becker muscular dystrophy Myotonic Dystrophy Schwartz Jampel Central Core Disease myotonia congenita Noonan AD Malignant hyperthermia ```

Answer 114

``` Marfan Homocysteinuria MEN2B Shprintzen Goldberg Beals Loey-Dietz syndrome Ehlers Danlos syndrome Stickler ```

Answer 115

Mental Retardation Adducted thumbs Shuffling gait Aphasia

Answer 116

Sporadic (80%) Familial non-MEN MEN 2A MEN 2B

Answer 117

``` Mitochondrial Encephalopathy Lactic Acidosis Stroke-like episodes ```

Answer 118

``` Pituitary Adenoma Parathyroid Hyperplasia/Adenoma Pancreatic islet cell tumor Carcinoid Adrenocortical carcinoma ```

Answer 119

Medullary Thyroid Carcinoma Parathyroid Hyperplasia/Adenoma Pheochromocytoma

Answer 120

Medullary Thyroid Carcinoma Multiple Mucosa Neuromas Pheocromocytoma Marfanoid

Answer 121

Valproic Trisomy 18 Triploid OEIS (omphalocele, extrophy, imperforate anus, spinal defects) diabetes CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) Fetal Alcohol syndrome

Answer 122

``` Mitochondrial Encephalopathy Ragged Red Fibres ```

Answer 123

``` Zellweger Smith Lemli Opitz Mucopolysaccharidosis Mucolipidosis Homocysteinuria Glutaric aciduria Menkes PDH deficiency ```

Answer 124

Increase mutant protein function (B6 for homocysteinuria) Use alternate pathway (Betaine for homocysteinuria) Replace extracell protein (factor 8 deficiency, alpha-1 antitrypsin) Bind to toxin (Ammonul) Bind to product that is accumulating (Zinc in Menkes) Provide missing compound (biotin, pyridoxine, mannose) Replace intracellular protein intracellularly (glucocerebrosidase) decrease precursor (PKU) Gene RX

Answer 125

``` decreased product (Tneg albinism,hemophilia) Increase precursor (PKU) Membrane transport (Cystinuria) Receptor (familial hypercholesterolemia) Increased enzyme ```

Answer 126

``` Rett syndrome Angelman Kleefstra Cockayne MOPD II (microcephalic osteodysplastic primordial dwarfism) Breakage (Bloom, Fanconi anemia) 4p- 5p- Trisomy 18/13 AR microcephaly/Seckel syndrome TORCH Dubowitz Coffin-Siris Borjeson-Forsman-Lehmann Smith-Lemli-Optiz Miller-Dieker ```

Answer 127

``` Marden Walker Stickler Pierre Robin Treacher Collins Nager Miller Goldenhar Oromandibular Limb Otopalatal digital 2 ```

Answer 128

``` Oculoauricular vertebral Townes Brock Accutane Pallister-Hall CHARGE Mandibulo-facial Dysostosis with microcephaly (EFTUD2) ```