Acrania is sonographically detected by
an irregular shaped head that lacks echogenic calvarium surrounding the brain. It is the presence of brain
tissue without the calvarium
sonographic findings of cepahlocele
an extracranial mass which may be fluid filled or contain solid components
a bony defect in the skull
Holoprocenepahly is
abnormal cleavage of the forebrain
holoprocenepahly is more commonly associated with
trisomy 13
skeletal dysplasia is most commonly seen with
cloverleaf skull
most common lethal dysplasia
thanatophoric dysplasia
type 1 thanatophoric dysplasia consists of
short, curved femurs and a flat vertebral bodies
type 2 thanatophoric dysplasia
straight short femurs flat vertebral columns and cloverleaf skull
shortening of proximal long bones femur and humerus
rhizomellic dysplasia
shortening of the distal extremeties radius and ulna tibia fibula
mesomelic dysplasia
shortening of both long and short bones
severe micromelia
Achondroplasia
nonlethal skeletal dysplasia
results from decreased endochrondal bone formation
produces short squat bones