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NCB V > Congenital and Chromosomal Abnormalities > Flashcards

Congenital and Chromosomal Abnormalities Flashcards

1
Q

If baby has external, internal organs…

A

soak sterile gauze in saline, cover with bandage/saran wrap

EMERGENT. Transport to hospital

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2
Q

Signs of chromosomal abnormalities

A

microcephaly
upward slanting eyes
Simian crease
muscular hypotonicity

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3
Q

Signs of congenital anomalies

A 
hydrocephaly
microcephaly
anencephaly
cranioynostosis
spina bifida
cleft lip
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4
Q

Trisomy 21: Down’s: Signs and Sxs

(1: 7000 births
1: 150 pregnancies)

A 
placid, IQ~50, microcephaly, flattened occiput
epicanthal folds, upward slant eyes
Brushfield spots (on edges of iris)
large protruding tongue without central fissure
broad flattened ridge of nose
hypotonicity
Simian crease
Clinodactyly (curved pinky)
Heart Dz
GI anomaly (eg duodenal atresia)
delayed puberty
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5
Q

Trisomy 18: Edward’s: Signs and Sxs
(1:6000 births
95% abort early)

A 
SGA, feeble fetal activity
small placenta, 1 umbilical a
weak cry
hypoplasia of muscle, hopotonia
microcephaly, micrognathia
low set, malformed ears
clenched fist: 2nd and 5th overlap 3rd and 4th~pathognomonic
hypoplastic nails, hypoplastic thumb
VSD
cryptochidism
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6
Q

Trisomy 13: Patau’s Syndrome

1:10,000-20,000

A

MIDLINE ANOMALIES
microcephaly, sloping forehead
Holoproscencephaly
myelomeningocele
micropthalmia, colobomas (fissures of iris)
capillary hemangiomas on forhead, pos neck
cleft lip/palate
low set, malformed ears
Simian crease
Rocker bottom feet
Dextrocardia, VSD, patent ductus arteriosus

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7
Q

Hydrocephalus

A

excess CSF in ventricles
caused by obstrution, excess production, impaired absorption
Labs/imaging: dx by Xray/CT; electroencephalogram, screen for infxs dz
TX: Surgical, refer to neurosurgeon

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8
Q

Craniosynostosis

A

premature fusion of two or more cranial sutures

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9
Q

Holoproscencephaly

A

failure of forebrain to divide properly

cyclopia, flat nose, single incisor, delayed milestones

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10
Q

Encephalocele

A

protrusion of brain tissue through suture

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11
Q

Spina bifida

A

800 mcg folate preconception or prenatally to prevent!
Occulta- dimple or hairy patch
Meningocele- covered by membrane, risk of infection and hydrocephaly. SURGERY
Myocele/Myelomeningocele- dont feed because will need SURGERY. lumbosacral mass, patulous anus (distended/wide open)

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12
Q

Esophageal atresia

A

polyhydramnios often present

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13
Q

Tracheoesophageal fistula

A

absence of stomach bubble on US

sxs: drooling, cyanosis, resp distress

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14
Q

Hypertrophic pyloric stenosis

A

presents at 4-6 weeks
forceful projectile vomiting
pylorus feels like an almond

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15
Q

Meconium plug

A

sxs: ab distension, vomiting
RFs: diabetic mom, toxemic mom

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16
Q

Meconium ileus

A

abnormally thick meconium obstructs ileum
sxs: palpate thick loops of intestines, ab distension, vomiting, volvulus, cyst
~100% assoc with CF

17
Q

Hirschsprung’s Dz

A

absence of Meissner’s and Auerbach’s plexuses
sxs: obstination, distension, V
TX: removal of aganglionic portion of colon

18
Q

Imperforate anus

A

assoc with 1 artery cord

may have assoc fistula

19
Q

Omphalocele

A

midline defect at umbilicus- abdominal viscera protrudes, covered by membrane
COVER
EMERGENT transport
nothing po

20
Q

Gastrochisis

A

same as omphalocele but no membrane

21
Q

GU Anomalies

A

most common anomaly

22
Q

Horseshoe kidney

A

kidneys fused at lower pole

23
Q

Pancake kidney

A

kidney is a single mass with 2 collecting systems

24
Q

Renal agenesis

A

unilateral or BL absence of kidney

(assoc with Potter syndrome)
Pulm hypoplasia
Oligohydramnios
Twisted face
Twisted skin
Extremity defects
Renal failure
25
Q

Exstrophy of bladder

A

exterior bladder in suprapubic region

26
Q

Urethral anomalies

A

epispadias: dorsal. RARE
hypospadias: ventral.

27
Q

Environmental causes of congenital anomalies

A

hypoxia
infection: TORCH
radiation
drugs- OTC, Rx, street, alcohol

28
Q

Agenesis of corpus collosum

A

hypotonia, poor swallowing, poor motor coordination

29
Q

Hydranencephaly

A

cerebrum almost absent but skin/bones intact so fluid fills space

30
Q

Cleft lip/palate causes

A

teratogens, vit A def, antihistamine use, idiopathic

associated with Pierre Robin syndrome- wide cleft palate + migrognathia

31
Q

Diaphragmatic hernia

A

sxs: cyanosis, scaphoid ab, bowel sounds in thorax
Xray: opaque/lucent pockets in bowels

32
Q

Malrotation of bowel

A

complications: obstruction from retroperitoneal bands or volvulus

33
Q

choanal atresia

A

Congenital disorder where the back of the nasal passage (choana) is blocked, usually by abnormal bony or soft tissue

NCB V (7 decks)

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