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MCN568 > Congenital Anomalies > Flashcards

Congenital Anomalies Flashcards

Faranoff 30, 11th edition

1
Q

congenital anomaly

A

an internal or external structural defect that is identifiable at birth; major or major

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2
Q

malformation

A

primary structural defect in tissue formation (neural tube defect, congenital heart defect); genetic or teratogenic factor

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3
Q

deformation

A

abnormal mechanical forces acting on otherwise morphologically normal tissues; clubfoot, altered head shape

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4
Q

disruption

A

destruction nor interruption of intrinsically normal tissue, usually affects body part not a specific organ

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5
Q

single gene / mendelian

A

limb anomalities

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6
Q

chromosomal disorder

A

Downs Syndrome, trisomy 18, trisomy 13. Klinefelter syndrome, Turner syndrome

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7
Q

dysmorphisms

A

anomalous external physical features

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8
Q

association

A

multiple congenital anomalities with no specific or common etiology: VATER, CHARGE

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9
Q

syndrome

A

recognized pattern of anomalities with specific, usually heritable cause: Holt-Oram syndrome, The Cornelia de Lange syndrome

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10
Q

etiology of malformations broad categories

A

genetic(multifactorial, single gene/Mendelian, or chromosomal), environmental/teratogenic, and unknown

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11
Q

genetic complex examples

A

congenital heart defects, neural tube defects, cleft lip and palate, clubfoot, congenital hip dysplasia; usually genetics and environmental

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12
Q

single gene/Mendelian examples

A

limb anomalities, Smith-Lemli-Opitz syndrome;

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13
Q

chromosomal examples

A

down syndrome/trisomy 21; trisomy 18, and trisomy 13; aneuplodidies of the sex chromosomes (Klinefelter syndrome or Turner syndrome)

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14
Q

chromosomal aberrations testing

A

karyotype, FISH, chromosomal microarray(CMA) ; WES

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15
Q

teratogen

A

anything external to the fetus that causes a structural or functional disability in prenatal or postnatal life

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16
Q

common teratogens

A

alcohol, anticonvulsants, some altered metabolic states in the mother, (DM, phenylketonuria), infections: TORCH(toxoplasmosis, syphilis, rubella, cytomegalovirus, and herpes simplex)

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17
Q

congenital anomalities goal of the physical examination

A

to determine whether an anomaly is isolated or to detect a recognizable pattern of malformation so that a specific etiologic determination can be made

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18
Q

genetics skin

A

trisomy 21, hypothyroidism, cornelia de Lange syndrome-marbling pattern called cutis marmorata; Cafe-au-lait spots: neurofibromatosis; edema and coarse skin

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19
Q

genetics hair

A

sparse hair: ectodermal dysplasia; hirsutism: cornelia de lange syndrome, FAS

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20
Q

genetics head

A

macrocephaly, microcephaly

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21
Q

dolichocephaly

A

increase in anteriorposterior diameter

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22
Q

brachycephaly

A

decrease in anteriorposterior diameter

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23
Q

plagiocephaly

A

assymetric head shape

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24
Q

hypotelorism

A

eyes too close together

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25
hypertelorism
eyes too far appart
26
holoprosencephaly
trisomy 13; major malformation of CNS
27
epicanthal folds
normal, but also in trisomy 21
28
synophrys
fusion of the eyebrowns in the midline
29
microsTomia
small mouTh
30
macrosTomia
large mouTh
31
omphalocele
abdominal contents protrude through the umbilical opening
32
gastroschisis
isolated disruption in which the abdominal contents protrude through the periumbilical abdominal wall
33
dolichocephaly
increase HC diameter
34
craniotabes
soft or thinning bone; "ping-pong ball"; vitamin D deficiency
35
ankyloglossia
tonge tie
36
cystic hygroma
neck mass
37
sequence
pattern of multiple anomalies derived from a single known or presumed cause; example oligohydramnios sequence/Potter syndrome, Pierre Robin sequence
38
Potter syndrome
limb deformation, pulmonary hypoplasia, Potter facies (beaked nose, infraorbital creases, and simple ears
39
Pierre Robin sequence
microghathia, cleft palate, glossoptosis
40
VATER
vertebral abnormalities, anal artesia, cardiac anomalies, tracheoesophageal fistula, renal and radial (limb) dysplasia
41
CHARGE
coloboma, heart anomalies, choanal atresia, restriction of growth and development, genital and ear anomalies
42
Fluorescence in situ hybridization FISH
identify deletions in specific locations
43
chromosomal microarray
targets known microdeletion syndromes, subtelomeres, and pericentric regions
44
whole exome sequencing WES
evaluation of entire coding region of the genome
45
karyotype
first like test for suspected aneuploidy (trisomy 21, 18, 13, and Turner and Klinefelter syndromes
46
cutis marmorata / livedo reticularis
normal infant skin when exposed to cold temperatures; pattern may occur with trisomy 21, hypothyroidism, and Cornelia de Lange syndrome
47
Cafe-au-lait spots
characteristics of neurofibromatosis; 3+
48
macrocephaly
hydrocephaly and conditions affecting skeletal system
49
craniosynostosis
premature fusion of cranial sutures
50
coloboma
developmental defect in reference to en eye
51
microsomia
severely malformed pinna and an absent ear canal
52
macroglossia
big tounge
53
micrognathhia
small mandible
54
rhizomelia
proximal shortening of the limbs
55
mesomelia
shortening of the middle segment of the limb
56
acromelia
shortening of hands and feet
57
clinodactyly
incurving of the digit
58
acheiria
congenital absence of entire hand
59
acheiropodia
absence of two hands
60
ectrodyctaly
partial or total absence of distal segment of a hand or foot
61
polydactyly
partial or complete extra digit
62
syndactyly
fusion of the digits
63
bradydactyly
shortening of one or more digits
64
arachnodactyly
long, spiderlike digits
65
camptodactyly
irreducible flexion of the digits
66
chromosomal microarray CMA
first line of genetic testing in neonate with multiple anomalies
67
fluorescence in situ hybridization FISH
used for high level of suspicion for a known microdeletion syndrome
68
whole exome sequencing WES
testing of entire coding region or genome; testing of parental DNA included
69
biochemical testing
for metabolic malfunctions syndromes; example Smith-Lemli-Opitz syndrome,

MCN568 (11 decks)

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