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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
Q

hypertelorism

A

eyes too far appart

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26
Q

holoprosencephaly

A

trisomy 13; major malformation of CNS

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27
Q

epicanthal folds

A

normal, but also in trisomy 21

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28
Q

synophrys

A

fusion of the eyebrowns in the midline

29
Q

microsTomia

A

small mouTh

30
Q

macrosTomia

A

large mouTh

31
Q

omphalocele

A

abdominal contents protrude through the umbilical opening

32
Q

gastroschisis

A

isolated disruption in which the abdominal contents protrude through the periumbilical abdominal wall

33
Q

dolichocephaly

A

increase HC diameter

34
Q

craniotabes

A

soft or thinning bone; “ping-pong ball”; vitamin D deficiency

35
Q

ankyloglossia

A

tonge tie

36
Q

cystic hygroma

A

neck mass

37
Q

sequence

A

pattern of multiple anomalies derived from a single known or presumed cause; example oligohydramnios sequence/Potter syndrome, Pierre Robin sequence

38
Q

Potter syndrome

A

limb deformation, pulmonary hypoplasia, Potter facies (beaked nose, infraorbital creases, and simple ears

39
Q

Pierre Robin sequence

A

microghathia, cleft palate, glossoptosis

40
Q

VATER

A

vertebral abnormalities, anal artesia, cardiac anomalies, tracheoesophageal fistula, renal and radial (limb) dysplasia

41
Q

CHARGE

A

coloboma, heart anomalies, choanal atresia, restriction of growth and development, genital and ear anomalies

42
Q

Fluorescence in situ hybridization FISH

A

identify deletions in specific locations

43
Q

chromosomal microarray

A

targets known microdeletion syndromes, subtelomeres, and pericentric regions

44
Q

whole exome sequencing WES

A

evaluation of entire coding region of the genome

45
Q

karyotype

A

first like test for suspected aneuploidy (trisomy 21, 18, 13, and Turner and Klinefelter syndromes

46
Q

cutis marmorata / livedo reticularis

A

normal infant skin when exposed to cold temperatures; pattern may occur with trisomy 21, hypothyroidism, and Cornelia de Lange syndrome

47
Q

Cafe-au-lait spots

A

characteristics of neurofibromatosis; 3+

48
Q

macrocephaly

A

hydrocephaly and conditions affecting skeletal system

49
Q

craniosynostosis

A

premature fusion of cranial sutures

50
Q

coloboma

A

developmental defect in reference to en eye

51
Q

microsomia

A

severely malformed pinna and an absent ear canal

52
Q

macroglossia

A

big tounge

53
Q

micrognathhia

A

small mandible

54
Q

rhizomelia

A

proximal shortening of the limbs

55
Q

mesomelia

A

shortening of the middle segment of the limb

56
Q

acromelia

A

shortening of hands and feet

57
Q

clinodactyly

A

incurving of the digit

58
Q

acheiria

A

congenital absence of entire hand

59
Q

acheiropodia

A

absence of two hands

60
Q

ectrodyctaly

A

partial or total absence of distal segment of a hand or foot

61
Q

polydactyly

A

partial or complete extra digit

62
Q

syndactyly

A

fusion of the digits

63
Q

bradydactyly

A

shortening of one or more digits

64
Q

arachnodactyly

A

long, spiderlike digits

65
Q

camptodactyly

A

irreducible flexion of the digits

66
Q

chromosomal microarray CMA

A

first line of genetic testing in neonate with multiple anomalies

67
Q

fluorescence in situ hybridization FISH

A

used for high level of suspicion for a known microdeletion syndrome

68
Q

whole exome sequencing WES

A

testing of entire coding region or genome; testing of parental DNA included

69
Q

biochemical testing

A

for metabolic malfunctions syndromes; example Smith-Lemli-Opitz syndrome,

MCN568 (11 decks)

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