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Pediatric Board > Genetics > Flashcards

Genetics Flashcards

1
Q

What is Wolf-Hirschhorn Syndrome

A 
4p- deletion syndrome
Greek helmet facies (ocular hypertelorism, prominent glabella and frontal bossing)
growth deficiency
microcephaly
beaked nose
hypertension
short philtrum
hypotonia
congenital cardiac anomalies
seizures
developmental delay
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2
Q

What is Cri-Du-Chat Syndrome?

A 
5p- deletion syndrome
moon face with telecanthus (wide spaced eyes)
down slanting palpebral fissures
hypotonia
short stature
microcephaly
high arched palate
wide and flat nasal bridge
intellectual disability 
cardiac manifestations in 33%
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3
Q

What is de Grouchy syndrome?

A 
18q -
microcephaly and developmental delay
atretic or narrowed ear canals
depressed midface
protruding mandible
deep-set eyes
everted lower lip
intellectual disability
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4
Q

What is 9p- or trigonocephaly

A

discrete exophthalmos, arched eyebrows, short neck with pterygium colli (bilateral web or tigh bank of skin of the neck extending from the acromion to the mastoid) long fingers, toes and cardiac abnormalites

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5
Q

What is see in Angelman syndrome

A 
maternally derived 15 q11-13
jerky ataxic movements
microcephaly
characteristic gait
hypotonia
fair hair
midface hypoplasia
prognathism (large chin, mandible)
seizures
inappropriate bouts of laughter
severe intellectual disability
absent or very delayed speech
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6
Q

what is seen in Prader-Willi syndrome?

A 
Paternally derived 15 q11-13
severe hypotonia at birth
failure to thrive at birth followed by obesity later
short stature
small hands and feet
hypogonadism
mild intellectual disability
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7
Q

What is seen in Williams Syndrome?

A 
7 q11.23 - deletion
periorbital fullness with prominent down turned lower lip
friendly cocktail party personality
stellate pattern of the iris
strabismus
supravalvular aortic stenosis
intellectual disability
hypercalcemia
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8
Q

What is WAGR syndrome?

A 
11p13-
Wilms tumor
Aniridia
Genitourinary malformations
Retardation (intellectual disability)
wilms tumor in up to 50% by age 3
male genital hypoplasia (hypospadias, cryptorchidism)
intellectual disability from IQ <35 to normal
gonadoblastoma - esp girls, who have streak ovaries
long face
upward slanting palpebral fissures
ptosis
beaked nose
poorly formed ears
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9
Q

What is seen in Alagille syndrome?

A 
20 p12-
AD
mutation in the jagged-1 gene
Triangular facies with pointed chin
long nose with broad mid-nose
bile duct paucity with cholestasis
pulmonary valve stenosis and peripheral artery stenoses, tetralogy of fallot
embryotoxon ocular defects prominent white ring of Schwalbe and iris strands that partially obscure the chamber angle
butterfly vertebrae
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10
Q

What is DiGeorge or velocardiofacial syndrome

A

22q11.2 deletion
Catch 22
cleft palate
absent thymus
hypocalcemia (parathyroid hypoplasia / agenesis)
cardiac abnormalities (tetralogy of fallot > interrupted aortic arch > VSD > truncus arteriosus
short stature
behavior problems
hypoplasia of the auricle and external auditory canal

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11
Q

What is seen in Klinefelter syndrome?

A 
47 XXY
males who are tall with gynecomastia
secondary sex development is delayed
azoospermia
small testes
infertile
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12
Q

What is seen in Turner Syndrome?

A 
45 X
short stature
ovarian failure / gonadal dysgenesis with lack of secondary sexual development
webbed neck
broad shield like chest
posteriorly rotated ears
lymphedema of the hands and feet
50% have cardiac defects of bicuspid aortic valve, coarctation of the aorta
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13
Q

What disorders are associated with Turner Syndrome

A 
hashimoto thyroiditis
alopecia
carbohydrate intolerance
vitiligo 
GI disorders
***Gonadoblastoma if they are a mosaic with a Y chromosome***, streak gonads must be removed
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14
Q

What is pierre robin sequence

A

mandibular hypoplasia
this displaces the tongue leading to cleft palate, glossoptosis
feeding and respiratory problems

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15
Q

What is hemifacial microsomia?

A

external ear anomalies (microtia, anotia, canal atresia and or preauricular tags
maxillary and/or mandibular hypoplasia

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16
Q

What is associated with hemifacial microsomia?

A

cervical vertebral anomalies in 33%
cardiac anomalies
renal anomalies (why a renal US is obtained in those with ear anomalies)

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17
Q

What is Goldenhar Syndrome

A 
hemifacial microsomsia
and epiblulbar lipodermoids (fatty-fibrous masses on globe)
conductive hearing loss
vertebral defects
cardiac anomalies
renal anomalies
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18
Q

What is seen with Brachio-Oto-Renal syndrome

A

brachial cleft fistulas or cyts
preauricular pits
cochlear and stapes malformation with mixed sensory and conductive hearing loss
renal dysplasia /aplasia

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19
Q

What is seen in Treacher-Collins Syndrome

A 
AD
mandibular and maxillary hypoplasia
zygomatic arch clefts
ear malformations
down sloping palpebral fissures
colobomata of the lower eyelids
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20
Q

What is seen in Achondroplasia

A

disproportionately short stature with rhizomelic shortening (short lengths of the most proximal segment compared to distal segments)
trident hands (3-4 digits more lateral, short hands, broad fingers)
macrocephaly
flat nasal bridge, prominent forehead, midface hypoplasia

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21
Q

What are children with achondroplasia at risk for?

A 
serous otitis media
motor milestone delay
bowing of the legs
orthodontic problems
foramen magnum stenosis and/ craniocervical junction abnormalities causing cord compression -> apnea, quadriparesis, growth delay and hydrocephalus
22
Q

What is seen in Osteogenesis imperfecta Type 1?

A 
AD
mildest and most common form
blue sclera
delayed fontanelle closure
hyperextensible joints
hearting loss
stature is near normal
multiple fracture before puberty
23
Q

What do individuals with Osteogenesis imperfecta Type 1 have later in life?

A

hearing loss

scoliosis in their 20-30s

24
Q

What happens with Osteogenesis imperfecta Type 2?

A

most severe form
usually results in death in infancy from respiratory insufficiency
numerous fractures and severe bone deformity
XR shows crumpled appearance

25
Q

What happens with osteogenesis imperfecta type 3?

A

presents as a newborn with numerous fractures
severe short stature and many can not ambulate as bones can not support their own weight
neurologic complications such as hydrocephalus and basilar skull invagination

26
Q

What occurs in osteogenesis type 4?

A 
milder forms
sclera are usually white or near-white
delayed fontanelle  closure
fractures are present at birth
shorter than average stature
***tibial bowing***
27
Q

What is seen in Marfan Syndrome?

A 
ectopic lentis
aortic root dilatation or dissection
family history
systemic features (need 7 points plus one of the above)
wrist and thumb sign (long fingers)
pectus
myopia
mitral valve prolapse
pneumothorax
skin striae
scoliosis or kyphosis
high arched palate
28
Q

What is the usual cause of death in someone with marfan syndrome?

A

aortic root dilation and rupture

29
Q

What should be ruled out in someone who is suspected to have marfan syndrome?

A

homocystinuria

30
Q

What are some of the findings in classic Ehleros Danlos syndrome

A

doughy skin
extra skin over the hands, feet and stomach
stretchy skin
skin is fragile and opens with slight trauma
easily bruising due to capillary fragility
abnormal scaring, with pseudotumors on heels, elbows and knees from abnormal scarring
hypermobile joints

31
Q

What does someone with Ehleros Danlos need to be screened for?

A

mitral valve prolapse

proximal aortic dilatation

32
Q

What is seen in neurofibromatosis type 1

A

AD
Need any 2 of the below:
café au lait spots, >6, > 0.5 cm in children > 1.5 cm in adolescents/adults
2 benign cutaneous neurofibromas or 1 plexiform neurofibroma
axillary or inguinal freckling
> 2 Lisch nodules (benign iris hamartomas)
optic glioma
sphenoid dysplasia or thinning of the long bone cortex with or without pseduarthrosis
1st degree relative with neurofibromatosis

33
Q

What else needs to be observed in patients with neurofibromatosis type 1?

A

plexiform neurofibromas have a 10% risk of malignant transformation to peripheral sheath tumors
50% have ADHD, learning disorders or speech disorders
short stature, macrocephaly, hypertension, constipation and headaches

34
Q

What is seen in Neurofibromatosis Type 2

A

AD
bilateral vestibular schwannomas (acoustic neuromas)- hearing loss, tinnitus, imbalance, and facial weakness

other CNS tumors:
intracranial meningiomas, spinal schwannomas, cranial nerve schwannomas ependymomas

lens opacities or cataracts

35
Q

What is seen in tuberous sclerosis

A 
AD
ash leaf spots or hypo-pigmented macules
shagreen patches
facial angiofibromas
forehead plaques
ungula and gingival fibromas
cortical tubers and subependymal nodules
renal angiomyolipomas
polycystic kidney disease
rhabdomyomas in infancy
infantile spasms (treat with vigabatrin)
36
Q

What cancers are seen in von Hippel-Lindau Syndrome

A

AD
for diagnosis:
2 or more hemangioblastomas in the CNS (esp cerebellum) or retina
or 1 hemangioblastomas and 1 of:
pheochromocytoma
endolymphatic sac tumors
cysts in the kidney / pancreas
renal cell carcinoma
pancreas involvement, neuroendocrine tumors
or 1 first degree relative with the disease and 1 of the above manifestations

37
Q

what two syndromes are seen with PTEN hamartoma tumor syndrome

A

Cowden syndrome

Bannayan-Riley-Ruvalcaba syndrome

38
Q

What is cowden syndrome?

A

high risk of benign and malignant tumors of thyroid, breast and endometrium
usually have macrocephaly, trichilemmomas (benign outer root of the hair sheath) papillomatous papules

39
Q

What is bannayna-Riley-Ruvalcaba syndrome

A

macrocephaly, intestinal hamartomatous polyposis (not malignant but can grow to cause obstruction)

40
Q

What defects are seen with Thalidomide

A

limb defects including missing limbs

ear malformations with deafness

41
Q

What defects can occur if baby is exposed to carbamazepine in utero

A

< 1% risk of spina bifida with exposure during days 15-29

42
Q

What defects can occur if baby is exposed to methotrexate in utero

A

increased risk of craniosynostosis, cranial facial abnormalities and limb defects
during weeks 6-9

43
Q

What defects can occur if baby is exposed to ace inhibitors in utero

A

if exposed during 2nd and 3rd trimesters

increases the risk of renal dysgenesis, oligohydramnios, skull ossification defects

44
Q

What defects can occur if baby is exposed to diethylstilbesterol in utero

A

use before 12 weeks gestation increases risk of vaginal adenocarcinoma at a later age
uterine anomalies, vaginal adenosis and male infertility

45
Q

What defects can occur if baby is exposed to lithium in utero

A

use before 8 weeks

< 1% chance ebstein anomaly

46
Q

What defects can occur if baby is exposed to phenytoin in utero

A

use in first trimester, 10% risk of

growth deficiency, developmental delays, craniofacial anomalies, hypoplastic phalanges / nails

47
Q

What defects can occur if baby is exposed to retinoic acid in utero

A

serious malformations: similar to DiGeorge syndrome, microcephaly, facial nerve palsies, microtia, cardiovascular defects, thymic hypoplasia and genitourinary anomalies

48
Q

What defects can occur if baby is exposed to streptomycin in utero

A

Use during the third trimester results in hearing loss

49
Q

What defects can occur if baby is exposed to tetracycline in utero

A

use after 20 weeks is associated with bone and tooth staining

50
Q

What defects can occur if baby is exposed to valproic acid in utero

A

Use in the first 30 days, 2% risk of spina bifida

1st trimmest : craniofacial abnormalities, preaxial defects

51
Q

What defects can occur if baby is exposed to warfarin in utero

A

nasal hypoplasia stippled epiphyses

if used later than 6-9 weeks CNS effects

52
Q

How is fetal alcohol syndrome diagnosed

A 
substantiated maternal alcohol use and 
2 of the following
shortened palpebral fissures
epicanthal folds
hypoplastic nasal root
short upturned nose
hypoplastic or absent philthrum
thin upper lip
midface hypoplasia
and 1 of the following:
weight < 10th 
microcephaly
length/height ratio < 10
and at least 1 developmental or learning problem

Pediatric Board (11 decks)

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