Holoprosencephaly -Embryo

Question 1

16Year obese primigravida girl

lukaiya baccha
no care

fetal heartbeat
stillborn via vaginal delivery

closley set eyes + midline mass consistent with a proboscis

autopsy - fused cerebral hemispheres _ absent forebrain fissure + single intracranial ventricle

mechanism ?

Answer 1

field defect
hydroprosencephaly HPE

Question 2

PROSENCHEPHALON PART ?

Answer 2

telen & diencephalon
5 weeks of gestation

Question 3

No divison into T & D of procenchephalon is called ?

Answer 3

Holoprosencephaly

Question 4

which mutation in HPE ?

Answer 4

sonic hedghog SHH

Question 5

Association of HPE ?

Answer 5

patau d - trisomy 13

Fetal alcohol syndrome

Question 6

clinical features of HPE ?

Answer 6

Median cleft lip/palate

single nostril nose

hypotelorism - close set eyes

proboscis - non -functioning nasal structure

single central orbital fossa

Question 7

MRI of HPE <

Answer 7

monoventricle

Question 8

risk of HPE ?

Answer 8

pituitary dysfunction
DI