SYNDROMES AND MULTISYSTEM DISORDERS

Question 1

VACTERL association

Answer 1

V - vertebral defects
A - anal atresia
C - cardiac anomalies
T - tracheoesophageal fistula with Esophageal atresia
R - renal anomalies
L - limb defects (primarily radial ray)

Question 2

VACTERL association dx

Answer 2

atleast 3 features must be present, not associated with chromosomal abnormalities

Question 3

VACTERL association risk factor

Answer 3

Maternal diabetes

Question 4

Vertebral defects (hemivertebrae)

Answer 4

scoliosis
fusion of vertebral bodies
posterior elements

Question 5

Anal atresia

Answer 5

dimple absent in atresia

Question 6

imperforate anus

Answer 6

associated with increased incidence of genital, urinary and lumbosacral spine abnormalities

Question 7

Cardiac malformations

Answer 7

ventricular septal defect (VSD) is most common

Question 8

Tracheoesophageal fistula with Esophageal atresia

Answer 8

best sign - persistent absent gastric fundus, increased amniotic fluid
small or absent stomach
polyhydramnios

Question 9

Limb malformations

Answer 9

restricted to upper limbs
common - radial ray malformation
club hand

Question 10

Renal anomalies

Answer 10

vesicoureteral reflux with additional structural defect.
most infants with structural renal defect also have anorectal malformation (anal atresia)

Question 11

Meckel - Gruber syndrome

Answer 11

1. renal cystic dysplasia
2. encephalocele or other cns abnormalities
   3.postaxial polydactyly
   4.normal karyotype
   5.autosomal recessive

Question 12

Beckwith Wiedmann syndrome

Answer 12

imprinting disorder
1.macrosomia
2.macroglossia
3.omphalocele
common-hepatomegaly

Question 13

Noonan syndrome

Answer 13

genetically heterogenous syndrome
1.congenital heart defects
2.webbed neck
3.pectus deformity - chest, short stature, characteristic facial appearance
4. males - cryptorchidism

Question 14

Noonan syndrome BEST CLUE

Answer 14

cystic hygroma with polyhydramnios and normal karyotype

Question 15

CNS

Answer 15

1.occipital encephalocele
2.dandy walker malformation
3.microcephaly common
4.agenesis of corpus callosum
5.ventriculomegaly
6.holoprosencephaly

Question 16

Facial malformations

Answer 16

1.cleft lip/palate
2.micrognathia
3.micropthalmia
4.ear malformations
5.slopping forehead

Question 17

heart

Answer 17

1.septal defects
2.coarctation of aorta
3.other anomalies

Question 18

extremities characterized by

Answer 18

1. postaxial polydactyly
   2.club feet
   3.short limbs
   4.bowing of long bones

Question 19

hepatic fibrosis

Answer 19

1.seen at autopsy
2.hepatomegaly and poor intrahepatic flow (3rd trimester)
3.ambigious genitalia
4.cryptorchidism

Question 20

genitourinary tract

Answer 20

1.common - renal cystic dysplasia
2.grossly enlarged echogenic kidneys
3.small or absent bladder
4.2nd trim oligohydramnios
5.anhydramnios