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Dysmorphology Flashcards

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1
Q

-plasia

A

describes the the number of cells compared to the norm

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2
Q

-pertrophy

A

describes the size of the cells compared to the norm

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3
Q

brachydactyly

A

short fingers

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4
Q

clinodactyly

A

curved/bent fingers

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5
Q

arachnodactyly

A

long and thin fingers

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6
Q

syndactyly

A

joined fingers

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7
Q

camptodactyly

A

flexion due to bone or ligament abnormalities

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8
Q

preaxial polydactyly

A

extra finger or toe on thumb/big toe side

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9
Q

postaxial polydactyly

A

extra finger or toe on the pinky side

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10
Q

hypotelorism

A

decreased interpupillary distance

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11
Q

hypertelorism

A

increased interpupillary distance

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12
Q

malformation

A

morphological abnormality that arises because of an abnormal developmental process

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13
Q

deformation

A

distortion by physical force of normally programmed structures

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14
Q

disruption

A

destruction of normally programmed structures or tissues

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15
Q

syndrome

A

A particular set of developmental anomalies occurring together in a recognizable and consistent pattern and known or assumed to be the result of a single etiology.

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16
Q

pleiotropic birth defects

A

Abnormalities of more than one organ system in different parts of the embryo or in multiple structures that arise at different times during intrauterine life caused by a gene mutation or a teratogen.

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17
Q

Association

A

A non-random collection of developmental anomalies not known to represent a sequence or syndrome that are seen together more frequently than expected by chance.

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18
Q

Dysplasia

A

Abnormal cellular organization within a tissue resulting in structural changes.

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19
Q

Brachycephaly

A

short head

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20
Q

Dolichocephaly

A

long head

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21
Q

Plagiocephaly

A

flat head leading to asymmetrical appearance

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22
Q

supraorbital ridge

A

basically, eyebrow bones

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23
Q

Synophrys

A

unibrow

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24
Q

ptosis

A

low set upper eyelid

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25
Q

Ectropion

A

lower eyelids turns or sags outward

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26
Q

telecanthus

A

increased distance between the inner canthi

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27
Q

Ankyloglossia

A

lingual frenulum tethers the bottom of the tongue’s tip to the floor of the mouth

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28
Q

Saggital

A

Cut from ventral to dorsal (nose to back of head, vertical plane)

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29
Q

Corronal

A

cut laterally (ear to ear, vertical plane)

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30
Q

Axial or transverse

A

magician’s box cut

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31
Q

kyphosis

A

rounding of back

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32
Q

hypertrichosis

A

abnormal body hair

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33
Q

dysmorphology of Turner syndrome

A

pedal edema, short stature, webbed neck, shield chest, renal anomalies, CHD, lack of puberty developments, short 4/5th metacarpals, triangular face, downslanting palpebral fissures, low set ears, gonadal dysgenesis in fetal life, ear infections

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34
Q

dysmorphology of Noonan syndrome

A

short stature, webbed neck, low posterior hairline, pectus excavatum/carinatum, pulmonic stenosis, septal hypertrophy, Cryptorchidism (undescended testes), ptosis

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35
Q

dysmorphology of Patau syndrome (trisomy 13)

A

cleft lip and palate, microcephaly, holoprosencephaly, Microphthalmia (small, abnormally shaped eyes), polydactyly, scalp cutis aplasia, clenched fists, seizures, cystic renal disease, neural tube defects, CHD, omphalocele, poly/oligohydramnios

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36
Q

dysmorphology of achondroplasia

A

broad forehead, flat nasal bridge, trident hands, small foramen magnum (hole at bottom of skull), short stature

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37
Q

dysmorphology down syndrome

A

hypotonia, depressed nasal bridge, upslanted palpebral fissures, brushfield spots, brachycephaly, loose skin neck folds, small ears, short fingers, 5th clinodactyly, transverse palm crease, thyroid disorders, CHD, small mouth, sandal gap, flat facial profile, developmental delays, hearing loss, Alzheimer disease, males usually infertile

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38
Q

dysmorphology 22q deletion syndrome

A

AKA DiGeorge, AKA velocardiofacial syndrome, Aortic arch or conotruncal heart defects, neonatal hypocalcemia, thymus hypoplasia/aplasia, cleft palate, Broad nasal root with narrow alar base and bulbous tip

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39
Q

dysmorphology Beckwith-Wiedemann syndrome

A

macrosomia, omphalocele, macroglossia, hypoglycemia, polycythemia

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40
Q

Fetal Alcohol Syndrome dysmorphology

A

growth deficiency, microcephaly, short palpebral fissures, smooth philtrum, thin upper lip, hypertonia, CHD, mental deficits

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41
Q

dysmorphology Edwards syndrome (trisomy 18)

A

prenatal growth deficiency, polyhydramnios, low set malformed ears, micrognathia, short sternum, clenched hands, rocker bottom feet, CHD, renal anomalies, cryptochidism, hypertelorism, microcephaly, hypotonia, seizures, poor suck/swallow, club foot, short palpebral fissures,

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42
Q

dysmorphology Prader Willi syndrome

A

hypotonia, failure to thrive, obesity, small hands and feet, hypogonadism, almond shaped eyes, narrow bi-frontal diameter

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43
Q

dysmorphology Williams syndrome

A

blue eyes, prominent lips, hoarse voice, Congenital heart defects to include supravalvular aortic stenosis, periorbital puffiness, friendly, variable mental deficits

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44
Q

dysmorphology Brachmann-de Lange Syndrome (Cornelia de Lange Syndrome)

A

growth deficiency, synophrys, downturned thin upper lip, intellectual disability

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45
Q

dysmorphology Treacher-Collins syndrome

A

mandibular hypoplasia, downslanting palpebral fissues, microtia, absence of lower eyelashes, coloboma of lower eyelid, conductive deafness,

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46
Q

dysmorphology Smith-Lemli-Opitz syndrome

A

growth deficiency, microcephaly, intellectual disability, anteverted nostrils, toe syndactyly, hypospadias, chryptorchidism,

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47
Q

dysmorphology Alagille syndrome

A

prominent forehead, deepset eyes, pointed chin, hypertelorism, posterior embryotoxon (cornea ridge), vertebral defects, CHD

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48
Q

dysmorphology deletion 5p-Syndrome (Cri du chat)

A

growth deficiency, microcephaly, mental deficiency, flaccid epiglottis (cat cry), hypertelorism, epicanthal folds,

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49
Q

dysmorphology CHARGE syndrome

A

coloboma, heart defects, atresia of choanae, retardation of growth and development, genital anomalies, ear anomalies

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50
Q

Klinefelter

A

47,XXY. Easy, passive babies. less body hair, some gynocomastia, tall. Often not ID’d until adulthood. Maybe treated with testosterone, usually infertile

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51
Q

XXX

A

taller, normal sexual development and fertility, some learning difficulties,

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52
Q

XYY

A

taller, normal sexual development and fertility, some learning difficulties,

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53
Q

what leads to cystic hygroma?

A

collection of lymphatic fluid

54
Q

most frequent major malformation in Down syndrome

A

CHD (about 50%)

55
Q

what valve is between right atrium and right ventricle?

A

tricuspid valve

56
Q

what valve is between left atrium and left ventricle?

A

mitral valve

57
Q

which side of the heart is usually oxygen poor?

A

right

58
Q

diastole

A

when ventricles are relaxed

59
Q

systole

A

when ventricles are contracting

60
Q

what does a heart murmur indicate?

A

Turbulent blood flow. ex. stenosis, septal defect, valve regurgitation

61
Q

ECGs

A

look at electrical functioning of heart. Can detect blocks and enlargements

62
Q

Wolf-Parkinson-White syndrome

A

extra electrical fibers. A loop can be created. Treated with ablation

63
Q

chest radiography

A

size of heart and chambers, vessel and organ positions

64
Q

dextrocardia

A

heart points to right instead of left

65
Q

echocardiography

A

detects structural defects, visualizes blood flow

66
Q

cardiac catheritization

A

to get very specific info, for intervention

67
Q

cardiac conditions that cause increased pulmonary blood flow

A

VSD, ASD, PDA, AVSD/AV canal

68
Q

VSD

A

Ventricular Septal Defect. oxygenated blood “leaking” from LV to RV. Heart has to work harder to provide enough oxygenated blood output

69
Q

ASD

A

Atrial Septal Defect. oxygenated blood “leaking” from LA to RA. Heart has to work harder to provide enough oxygenated blood output

70
Q

PDA

A

Patent Ductus Arteriosus. oxygenated blood from aorta “leaks” to pulmonary artery

71
Q

AVSD

A

Atrioventricular canal defect. opening between ventricles and atriums. oxygenated blood going to pulmonary artery. Common in Down syndrome. One common atrioventricular valve rather than distinct tricuspid and mitral valves

72
Q

Cardiac obstructive lesions

A

coarctation of aorta, pulmonary stenosis, hypoplastic left heart

73
Q

coarctation of aorta

A

heart works hards, so gets bigger

74
Q

hypoplastic left heart syndrome

A

small aorta, vessel connecting pulmonary artery and aorta, underdeveloped left ventricle, opening between atria

75
Q

cyanotic lesions - two main types

A

admixture lesions, obstruction to pulmonary flow with intracardiac shunt

76
Q

admixture lesions

A

transposition of the great arteries, total anomalous pulmonary venous return, persistent truncus arteriosus

77
Q

Obstruction to pulmonary flow with intracardiac shunt

A

tetralogy of fallot, tricuspid atresia, pulmonary atresia, Ebstein’s anomaly

78
Q

Tetralogy of fallot

A

VSD, overriding aorta, pulmonary stenosis and RVH

79
Q

truncus arteriosis

A

continuous pulmonary artery and aorta, opening between ventricles

80
Q

transposition of great arteries

A

aorta connected to right ventricle. pulmonary artery connected to left ventricle. vessel connecting aorta and pulmonary artery

81
Q

when should you think of connective tissue disorder?

A

multiple systems, chronic inflammation or pain, frequent fractures, dislocations, long long bones

82
Q

Systemic Lupus Erythematosus

A

autoimmune connective tissue disorder, chronic inflammation, mostly female, fatigue, pain, insomnia

83
Q

osteogenesis imperfecta

A

collagen CTD, fractures w/o trauma, blue sclera, dentinogenesis imperfecta, hearing loss, short stature. Caused by diminished collagen production or defective collagen.

84
Q

Loeys-Dietz syndrome

A

vasculature has tangled characteristics. skeletal elements like scoliosis and joint laxity. Must be diagnosed early to prevent death.

85
Q

Stickler syndrome

A

hearing loss, occular symptoms, arthritis, hypermobility

86
Q

Marfan genes

A

FBN1 - encodes fibrillin protein for microfibrils. (TGFB?)

87
Q

dysmorphology of Marfans

A

tall, thin, sunken cheeks, micrognathia, retinal detachment, stretch marks, hernias, aortic root dilation

88
Q

Classical Ehlers Danlos symptoms

A

velvety elastic skin, atrophic scars, joint dislocation, chronic pain, decreased aortic stiffness, slow wound healing

89
Q

CEDS genes

A

COL5A1 COL5A2. Auto dominant

90
Q

Hypermobility EDS

A

frequent dislocations and bruising, may have underlying vascular abnormality, hypermobile joints, stretchy skin, no test we can do to diagnose, appears to be autosomal dominant

91
Q

Vascular EDS gene

A

COL3A1

92
Q

Vascular EDS

A

vascular ruptures, thin translucent skin (not elastic), facies, usually diagnosed in 20s, high risk pregnancies, high risk surgery, slow healing

93
Q

how do we screen for neural tube defects?

A

maternal serum alpha fetalprotein. opening in spine leaks AFP into amniotic fluid

94
Q

how much folate should women take daily?

A

0.4-0.8 mg (400-800ug)

95
Q

Is SB genetic?

A

Many genes have been associated with increased risk of SB in initial studies. More folic acid may be helpful

96
Q

neural tube defects pattern of inheritence

A

multifactorial

97
Q

most serious neural tube defect that’s compatible with life

A

Myelomeningocele

98
Q

primary classes of problems associated with SB

A

sensory, motor, and autonomic impairment

99
Q

problems associated with SB

A

hydrocephalus, seizures, visual impairment, renal failure, pressure ulcers, chronic pain, latex allergy

100
Q

functions of the kidney

A

electrolyte homeostasis, water homeostasis, excretion of metabolic waste, control blood pressure, stimulates bone marrow to make RBCs, production of calcitrol (Vit D), gluconeogenesis

101
Q

symptoms of glomerular disease

A

(break down of basement membrane) hematuria, proteinuria, elevated creatinine

102
Q

bilateral renal agenesis

A

not compatible with life. fetus undergoes Potter sequence

103
Q

multicystic dysplastic kidney

A

tubules do not fully branch out. urine builds up in tubules and cause cysts. often found on prenatal ultrasound

104
Q

Ureteropelvic Junction Obstruction (UPJO)

A

partial or complete obstruction of ureter. Can lead to Pelviectasis, hydronephrosis, Vesicoureteral reflux

105
Q

how do you treat chronic kidney disease?

A

control blood pressure, change diet, don’t smoke, treat anemia

106
Q

how do you treat end stage renal disease?

A

hemodialysis, peritoneal dialysis, kidney transplant

107
Q

Branchio Oto Renal Syndrome

A

branchial fistula and cysts, malformations of outer, middle, and/or inner ear, renal malformations (varying severity). autosomal dominant

108
Q

BORS inheritance and presentation

A

autosomal dominant, variable expressivity

109
Q

Meckel syndrome

A

triad: encephalocele, polycistic kidneys, polydactyly. autosomal recessive

110
Q

phenocopy (and example)

A

two distinct reasons that lead to same phenotype (Meckel and trisomy 13)

111
Q

what is main cause of Meckel syndrome?

A

renal cystic dysplasia. leads to potter sequence

112
Q

prune belly syndrome

A

triad: abdominal wall deficiency, elongated tortuous megaureters, undescended testes

113
Q

collagen IV related nephropathies

A

Alport syndrome, Thin Basement Membrane Disease

114
Q

Alport syndrome

A

focal nephritis with cochlear and ocular involvement

115
Q

Alport syndrome inheritance

A

X linked (80%), auto recessive, auto dominant (different Col IV genes)

116
Q

diagnostic criteria for Alport syndrome

A

hematuria, protienuria, hypertension, renal insufficiency

117
Q

thin basement membrane nephropathy

A

persistant microscopic hematuria. usually not pathological

118
Q

autosomal recessive polycystic kidney disease

A

bilateral microcysts. liver involvement in half of individuals

119
Q

ARPKD genes

A

PKHD1

120
Q

ARPKD mortality

A

1/3 die in neonatal period. 50% of survivors have ESRD by 10

121
Q

autosomal dominant polycistic kidney disease

A

adult onset. Multi system. bilateral renal cysts. cysts in other organs. vascular anomalies.

122
Q

ADPKD genes

A

PKD1 and PKD2

123
Q

ADPKD effects

A

kidney stones, kidney cyst ruptures, cardiovascular complications, hypertension, liver, pancreatic, ovarian, and splenic cysts, intracranial aneuryisms, colonic diverticula, mitral valve prolapse,

124
Q

how much folic acid should a woman have daily?

A

0.4-0.8 mg (400-800ug)

125
Q

NTD inheritance

A

multi factorial

126
Q

Types of Ehler-Danlos

A

Classic, hypermobility, vascular, kyphoscoliotic, arthrochalasis, dermatosparaxis

127
Q

kyphoscoliosis ED

A

auto recessive, PLOD1 mutations, hypotonia, kyphoscoliosis, flexible skin and joints

128
Q

dermatosparaxis ED

A

auto recessive, ADAMTS2 mutations, fragile and redundant skin, short

129
Q

homocystinuria

A

myopia, marfanoid habitus, scoliosis, thromboembolism, developmental delay, seizures

130
Q

why do we measure creatinine levels?

A

tells us about glomerular filtration rate (GFR)

131
Q

BRAHD

A

bilateral renal agenesis/hypoplasia/dysplasia. Not compatible with life. Potter sequence.

Medical Genetics (1 decks)

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