congenital anomalies and dysmorphic syndromes

Question 1

congenital anomaly

Answer 1

1) birth defect
- deviation from normal shape and structure from birth

Question 2

congenital disease

Answer 2

1) deviation from function without / with congenital anomaly existing from birth

Question 3

malformed conceptuses

Answer 3

1) spontaneous abortions 90%
2) diagnosed with congenital anomaly 2%
3) congenital anomaly at birth 8%

Question 4

etiology of congenital anomalies

Answer 4

1) 65% both
2) 10% environment
3) genetic 25%

Question 5

classes of congenital anomalies

Answer 5

1) malformation
2) deformation
3) disruptions
4) dysplasia

Question 6

single non syndromic anomalies

Answer 6

1) only one type is specific dysmorphology present

Question 7

multiple congenital anomalies

Answer 7

1) sequences
2) syndromes
3) associations
4) MCA

Question 8

malformations

Answer 8

1) genetic and/or environmental
2) starts in initial phase of development => till birth
3) major and minor structural abnormalities attributed to faulty development presented at birth

Question 9

deformation

Answer 9

environmental
2) normal development until birth => at end of embryonic period and end of fetal period => ends with anomaly
3) alterations in shape and position of a previously normally formed part

Question 10

disruptions

Answer 10

environmental
2) normal development until fetal period => something disturbed it => end is anomaly
3) breakdown of previously normal tissue

Question 11

dysplasia

Answer 11

genetic and/or environmental
1) starts normal => organization of stages and planning becomes disorganized => ends in anomaly
2) abnormal organization of tissue

Question 12

bilateral clef and palate

Answer 12

1) 1/500-1000
2) cleft lip, palate, both, atypical facial cleft

Question 13

neural tube defects

Answer 13

1) 1/1000 newborns
2) spinal bifida, anecephalous, encephalocoele, meningocoele, myelomeningocele, tethered spinal cord syndrome

Question 14

club foot

Answer 14

1) all parts are there
2) deformation - environmental factors

Question 15

torticollis with plagiocephaly

Answer 15

1) deformation of skull
2) treatment with helmets

Question 16

amniotic band syndrome

Answer 16

1) constriction ring syndrome
2) disruption congenital anomaly
3) affected during fetal period
- may happen during infection to amnion
- movement of string circulates around limbs and fingers, and result in constrictions or amputation

Question 17

atypical facial clefts

Answer 17

1) tessier clefts
2) swallowing amniotic bands, and can swallow part of face
3) corrected by plastic surgery
- no correlation in offspring

Question 18

dysostosis cleidocranialis

Answer 18

1) AD condition (genetic)
2) dysplasia
3) missing clavicles, failure of bone resorption, delayed closing of fontanels
4) RUNX2 gene mutation

Question 19

based on dysmorphology at birth

Answer 19

1) single
- only one anomaly
- clefts, NTDs, CHD, club foot
2) multiple C.A.
- sequences
- syndromes
- associations
- multiple congenital anomalies

Question 20

sequences

Answer 20

1) pierre robin sequence
2) holoprocencephaly syndrome

Question 21

symdromes

Answer 21

1) lip pits, popliteal pterygium sy
2) velocardiofacial sy, digeorge sy
3) ectodermal dysplasia
4) ectrodactyly
5) micrognathia
6) other rare sy

Question 22

pierre robin sy

Answer 22

1) micro and retrognathic mandible
2) U shapes cleft palate
3) airway compromise
- management of airway means catchup growth
4) no genetic risk - deformation etiology

Question 23

pierre robin sy

Answer 23

1) 25-50% sequence in syndromes
2)20% of syndromic cases is stickler syndrome
- hereditary progressive arthrophthalomopathy
3) AD mutations
4) appliance with speech valve

Question 24

holoprocencephaly sequence

Answer 24

1) missing midline facial structures
- hypoterlorism
- missing centrals
- missing premaxilla
- missing nasal bones
2) incomplete division of forebrain into hemispheres
- alobar
- semi lobar
- lobar
- middle interhemispheric
3) most common structural malformation of the human forebrain
- AD and AR patterns
- 1/8000

Question 25

lip pits (van der woude)

Answer 25

1) 1/35k - 100k
2) AD
3) lip pits in lower lip
4 )cleft lip and palate, cleft palate
5) mutations in the IRF6 gene

Question 26

popliteal pterygium sy

Answer 26

1) popliteal pterygia
2) buccal synechia
3) syndactyly
4) genital malformation
5) anykloblepharon
6) has all VW sy features

Question 27

velocardiofacial sy (digeorge)

Answer 27

1) long face, hypotonic
2) may have clefting
3) conotruncal cardiac anomalies (VSD)
4) learning disability
5) T lymphocyte dysfunction
6) 22q11.21 deletion

Question 28

digeorge sy (catch 22 sy)

Answer 28

1) neonatal hypocalcemia
2) thymic hypoplasia
3) conotruncal cardiac defect
4) learning disability
5) micrognathia
6) short
7) hemizygous deletion 22q11.21

cardiac defect
abnormal facial feature
thymic hypoplasia
cleft palate
hypocalcemia

Question 29

craniosynostosis syndromes

Answer 29

1) FGFR gene mutations
2) AD
3) midface hypoplasia
4) CP

Question 30

apert syndrome

Answer 30

1) craniosynostosis
2) midface hypoplasia
3) CP
4) syndactyly of fingers and toes

Question 31

crouzon sy

Answer 31

1) craniosynostosis
2) bulging eyes, exophthalmos
3) AD

Question 32

rapp hodgkin sy

Answer 32

1) ectodermal dysplasia clefting syndrome
2) AD

Question 33

hay wells (AEC) sy

Answer 33

1) AD
2) CL/P
3) ectodermal dysplasia –> hair, nails, teeth, skin
4) anyloblepharon filiforme anatum
5) hypospadia

Question 34

margarita island ED

Answer 34

1) hairs, nails, teeth ,skin
2) clefting
3) syndactyly
4) dry skin
5) PVLR1 gene
6) AR, XD, AD

Question 35

ectrodactyly - ED clefting sy

Answer 35

1) lobster claw syndrome
2) AD
3) always affect center ray - all extremities
4) ocular complications
5) clefting
6) other ectodermal dysplasia (Hair, skin, nails, teeth)

Question 36

treacher collins

Answer 36

1) TCOF1 gene, treacle protein
2) AD
3) expressivity mild to severe
4) 1 and 2 branchial arch disturbance
5) mandible will never catch up in growth

Question 37

oculo auriculo vertebral spectrum

Answer 37

1) goldenhar sy AD
2) hemfacial microsomia (E)
- disturbance of 2nd branchial arch
- deviation of midline
- malformation of ear

Question 38

majewski sy

Answer 38

1) short ribs, preaxial polydactyly, midline cleft upper lip

Question 39

teratogens

Answer 39

1) factor that has adverse effects on embryo or fetus
2) disease, drug, environmental agent
3) maternal disease
- rubella, toxoplasmosis, CMV
4) environment
- radiation, chemical, toxins
5) drugs
- alcohol, cigarettes, illicit drugs, thalidomide

Question 40

fetal alcohol syndrome

Answer 40

1) hypotonic face
2) disturbance of brain function
- learning disability
- social issues
3) affected by epigenetics
- susceptibility genes of mother and fetus