face and neck

Question 1

anopathalmia

Answer 1

t-13 no orbits

Question 2

cyclopia

Answer 2

t-13 one fused eye

Question 3

hypotelorism

Answer 3

t-13 too close eyes

Question 4

hypertelorism

Answer 4

far spaced eyes

Question 5

micropthalmia

Answer 5

small orbits

Question 6

proboscis

Answer 6

fake projection of nose seen w eye abnormalities t-13

Question 7

cleft lip/palate

Answer 7

if midline t-13 , associated with holoprocencephaly
if asssymetrical -amnio band syndrome

Question 8

nt thick

Answer 8

more then 10 mm t-21
18-23 weeks

Question 9

flat /absent nose bone

Answer 9

soft marker t-21

Question 10

macroglasssia

Answer 10

large tounge associated with beckman weidmann

Question 11

micrognathia

Answer 11

small mandiable/recess chin t-18 edwards

Question 12

turners/cystic hygroma

Answer 12

lymphatic fluid behind neck leads to hydrops

Question 13

axial bones

Answer 13

spine and cranial

Question 14

appendicular bones

Answer 14

limbs and pelvis

Question 15

radius

Answer 15

thumb side

Question 16

ulna

Answer 16

pinky

Question 17

VACTERL

Answer 17

V-VERTEBRAL
A-ANORECTAL
C-CARDIO
T-TRACHEAESPHOGEAL
E-ESPHOGOUS
R-RENAL
L-LIMS

Question 18

KHYPOSIS

Answer 18

POSTERIOR SHAPE TO SPINE :ASSOCIATED W
AMNIO BAND,VACTERL,LIMB BODY WALL

Question 19

SCOLIOSIS

Answer 19

LATERAL/S SHAPED

Question 20

LIMB BODY WALL

Answer 20

WHEN CORD IS SHORT LOOKS LIKE BABY CHEST FUSED TO PLACENTA
CAUSES:VASCULAR OCCLUSION , AMNIO RUPTURE,EMBRYONIC DEGNSIS

Question 21

ACHONDROPLASIA

Answer 21

DWARFISM
HETROZYG-most common non lethal, dominant
homozyg-lethal,recessive

findings:trident hand, frontal bossing, rhizomelia,mactocrania

Question 22

achondrogensis

Answer 22

fatal, no ossification of bones no shadowing

Question 23

osteogenisis imperfecta

Answer 23

brittle bones syndrome
type 2 worst
skull deformed from scanning

Question 24

thanotophoric dysplasia

Answer 24

1 most lethal dysplasia

when bones form abnormal
clover skull
bell shape chest
telephone shape long bones

Question 25

caudal regression syndrome

Answer 25

no coccyx or sacrum
associated with uncontrolled pre gest diabetes

Question 26

sirenomelia

Answer 26

fused limbs with renal agenesis will be fatal

Question 27

sacroccygeal teratoma

Answer 27

mass on distal spine,germ cell,seen in females done confuse with arnold , look at posterior fossa

Question 28

club foot (talipes)

Answer 28

medial feet t13
bottom foot and metatarsal aligned with tibula/fibula

Question 29

rockerbottom

Answer 29

smooth bottom foot t18

Question 30

sandal gap

Answer 30

t21 gap between big toe and second

Question 31

radial ray/tar

Answer 31

absent radius, hypoplastic ulna, no thumb

Question 32

polydactyly

Answer 32

too many finger t-13

Question 33

clinodactyly

Answer 33

clenched t18

Question 34

syndactyly

Answer 34

fusee - tripolidy

Question 35

amniotic band syndrome

Answer 35

when amnion gets ruptured
causes facial clefts, and amputation of limbs