Associated with shizz Flashcards
An increase in facial angle means an
increased risk of triploidy
Encephalocele is associated with
hypertelorism
midline facial clefting
Proboscis is associated with
alobar holoproscencephaly
Hypotelorism is associated with
alobar holoproscencephaly proboscis cyclopia absence of the nose Tri13, 18 and 21
Hypertelorism is associated with
anterior encephaloceles
Hypoplastic/absent nasal bone is seen with
Tri 21
Cleft lip/palate is associated with
Tri 13 and 18
structural anomalies–CNS and heart
familial
Macroglossia is associated with
Beckwith-Wiedemann syndrome
Tri21
Beckwith-Wiedemann syndrome is associated with
macrosomia
macroglossia
omphalocele
renal anomalies
Retrognathia is associated with
Tri 13 and 18
Low set ears are associated with
Noonan syndrome
trisomies
Thickened NT measurements are associated with
fetal aneuploidy
cardiac defects
other major malformations
adverse pregnancy outcomes
Cystic hygroma is associated with
Turner syndrome (XO) chromosomal abnormalities cardiac structural abnormalities
Neurentric cysts are associated with
vertebral or CNS abnormalities
Tight filum terminale syndrome is associated with
spinal cord tethering
abnormally positioned conus medullaris
Spinal dysraphism is associated with
vertebral body deformities
spina bifida
Spina bifida occulta (or closed) is associated with
disrupted development of the spinal nerve roots and spinal cord
Many individuals with spina bifida also have an abnormality of the cerebellum called the _______ _____ __ ________
Arnold Chiari II malformation
In 90% of people with myomeningocele also have what
hydrocephalus
People with spina bifida myelomeningocele (70-90%) also have a abnormally developed
corpus callosum
Chiari I
craniofacial conditions
Chiari II
spina bifida
Chiari III
severe malformations
incompatible with life
Lemon sign is associated with
ACH
Hydrocephalus is associated with
hydrocephalus
Abnormal spinal curvature is associated with
NTD
spina bifida meningomyelocele
Scoliosis and kyphosis are associated with
spina bifida
ventral abdominal defects
Are sacrococcygeal teratomas associated with vertebral and/or cranial abnormalities?
Nope
Caudal regression syndrome is associate with:
poorly controlled diabetes mellitus