conditions Flashcards

Question

beta thal

Answer 1

high A2 low MCV<80 ``` hets- mild anemia Bnot- null no function B+- missense reduced thal major two null mutations thal intermedia two beta plus ``` beta thal major- symptoms at 6-8 mo, severe anemia hepatosplenomegaly, jaundice, heart failure, thal facies transfusions, chelation, stem cell transplant

Answer 2

``` x linked factor 8 deficiency easy bruising joint bleeds replace factor 8 inversions first then sequencing ```

Answer 3

x linked factor 9 deficiency sequencing

Answer 4

x inactivation transcript

Answer 5

``` x linked hypotrichosis hypodontia nail hypoplasia alopecia abnormal sweating ```

Answer 6

``` X-linked proximal weakness gynecomastia testicular atrophy trinucleotide repeat gain of funtion ```

Answer 7

``` NTD myelomeningiocele heart defect raschisis epicanthal folds thin upper lip 3 bone thumb bifrontal narrowing ```

Answer 8

``` sporadic mt gene deletion progressive opthalmia heart block pigmentary retinopathy cerebellar syndrome short stature hearing loss high CSF die by 30s or 40s ```

Answer 9

neuropathy ataxia retinitis pigmentosa

Answer 10

infantile lethal encephalopathy regression severe form of NARP

Answer 11

lebers hereditary optic neuropathy unilateral central vision loss, two weeks later lose the other eye cardiac arrhythmias 18-30 onset

Answer 12

palsy of upwards gaze death in childhood/teen ataxia cholesterol trafficking defect

Answer 13

``` ashkenazi jews death by three yo sphingomyelinase deficiency heptosplenomegaly poor growth neurological degneration hypotonia ```

Answer 14

``` allelic with type A later onset fewer neurological symptoms sphingomyelinase deficiency heptosplenomegaly poor growth neurological degneration hypotonia ```

Answer 15

``` slenomegaly thrombocyopenia bruising clotting breating problems bony involvement erlenmyer flask deformity ``` type 1 adult, ERT, AJ, most common, osteopenia, pulmonary disease type 2 neurolic involvment, no ERT type 3 neuronopathic slowly progressive disturbances in upwards gaze swedish mutation L444P

Answer 16

``` von gierkes disease 3-4 mo onset MASSIVE hepatomegaly feed every three hours- cornstarch seizures hyperlipidemia xanthomas lactic acidosis hyperuricemia short stature delayed puberty ```

Answer 17

``` pompe disease 3-4 mo onset hepatomegaly myopathy hypotonia/floppy heart defect cardiomegaly elevated creatine kinase death by 1 year if no treatment ERT ```

Answer 18

``` hex a enzyme test NO organomegaly cherry red spot seizures loss of skills ```

Answer 19

``` VERY stiff startle to noise NO organomegaly death by 1 year stem cell transplant ```

Answer 20

mcardle disease exercise intolerance high carb diet

Answer 21

``` SIDS hypoglycemia hypoketotic lethargy NO FASTING Maternal HELLP syndrome ```

Answer 22

mitochondrial encephalopathy lactic acidois stroke like episodes

Answer 23

``` competence amount and accuracy of information patient understanding voluntariness authorization ```

Answer 24

more likely to be anueploidy | more likely to have another no call after

Answer 25

nasal hypoplasia stippled epiphyses limp hypoplasia

Answer 26

2-3 trimester potters sequence IUGR large anterior fontonelle

Answer 27

``` 2 fold CHD behavior anencephaly craniosynostosis mild withdrawl ```

Answer 28

CNS abnormalities

Answer 29

``` >5rads to have effects microcephaly ID seizures IUGR eye abnormalities carcinogenesis ```

Answer 30

look like antely bixler

Answer 31

``` cleft hypertelorism fingernail hypoplasia cognitive impairment meningiomyelocele dev delay CHD limb defects ```

Answer 32

``` CNS ear thymus ID cardio ```

Answer 33

``` clefts infertility ectopic pregnancy miscarriage IUGR placental abruption sids ```

Answer 34

``` IUGR cerebral calcification hearing loss occular abnormalities hepatosplenomegaly "BLUEBERRY MUFFIN BABY" ```

Answer 35

IUGR CNS behavior facial feature

Answer 36

neonatal adaptation syndrome

Answer 37

ABCD1 gene 3-10 yo onset progressive spasticity, cognitive decline, vision loss, to vegetative state

Answer 38

more often syndromic

Answer 39

2x more likely in boys cleft palate more often in girls

Answer 40

XLR Overgrowth Abdomen/Chest: supernumerary nipples, diastasis recti, umbilical hernia, diaphragmatic hernia Also: CHD, malformed kidneys, HSM, and skeletal anomalies Increased risk for Wilm’s Tumor and neuroblastoma Distinct face: Coarse: hypertelorism, macrostomia, macroglossia, broad nose w/ upturned tip

Answer 41

typically a deletion

Answer 42

need to do leukocytes for pregnant women

Answer 43

``` Skin Involvement: Ash leaf spots (hypopigmented) Shagreen patches Facial angiofibromas (disfiguring) Inguinal/Periungual fibromas Kidney Involvement: Renal cysts Renal angiomyolipoma Lung Involvement: Lymphagioleiomyomatosis (LAM) in 3rd/4th decade→ only women (estrogen) Heart Involvement: Cardiac rhabdomyoma (usually regresses by 1 yo) Brain Involvement: Cortical tubers (higher number= higher cognitive impairment) Subependymal giant cell astrocytomas Subependymal nodules Eye: optic nerve hamartomas (retinal) Other Notes: Variable expressivity; woman tend to be more mild than men ```

Answer 44

SPORADIC Wilm’s Tumor: 45-60% chance Aniridia: reduced visual acuity, photophobia; also cataracts and glaucoma GU Anomalies: more often in males: cryptorchidism (females may have streak gonad and/or bicornate uterus) Retardation: ID; may also have psych or behavioral problems Also: obesity (WAGRO), pancreatitis, kidney failure

Answer 45

``` Deletion: 4p16.3 Who Should they see Intellectual disability→ ST, OT, PT Seizures→ neurology Feeding Problems→ gastroenterology CHDs→ cardiology (usually ASD) Opthal Abnormalities→ ophthalmologist Skeletal problems→ orthopedics Antibody deficiencies→ immunologist ? Hearing loss→ audiologist Urinary tract malformation→ urologist ```

Answer 46

A1555G 12SRNA

Answer 47

IUGR, small placenta

Answer 48

cystic placenta, partial mole, IUGR, syndactyly

Answer 49

FGFR-related craniosynostosis, Achondroplasia, Alport Syndrome