ultrasound diagnosis of fatal anomalies

APPENDIX
Table 19.2
(Continue)
Disorder
Skull/vertebral
column
Central nervous
system
Facial findings
Neck/hygroma
colli
Extremities,
skeleton
Noonan
syndrome, p. 265
Hemivertebrae
Hypertelorism,
deep-set ears
1st and 2nd
trimester, cystic hygroma
with hydrops
Osteogenesis
imperfecta,
p. 159
Demineralization of
skull, intercalated
bone
Occ. hygroma colli
Short limbs, fractures,
narrow thorax,
possibly bell-shaped
thorax, reduced fetal
movements
Osteopetrosis Macrocephaly Hydrocephalus
Otopalatodigital
syndrome type I
Incomplete closure
of arches of isolated
vertebrae
Broad forehead,
hypertelorism,
supraorbital folds,
broad nasal bridge,
flat mid-face,
microgenia, cleft
palate
Short and stubby end
phalanges of hands
and feet (froghand),
swellingof large
joints and reduction
in movement
Otopalatodigital
syndrome type II
Wideningof cranial
sutures
Cleft palate, microgenia,
microstomia,
hypertelorism
Clenched fist, short
thumb, broad great
toe
1
Pena–Shokeir
syndrome, p.267
Microgenia,
depressed nasal
bridge, hypertelorism,
occ. cleft
palate
Multiple joint contractures,
ulnar deviation
of hands, club
feet, akinesia syndrome,
thoracic
hypoplasia, clenched
hands, camptodactyly
Perlman
syndrome
2
Peters-plus
syndrome
Occ. microcephaly
Occ. hydrocephalus,
agenesis of corpus
callosum
Microgenia, round,
broad face, cloudingof
cornea
Short-limb dwarfism,
clinodactyly of the
5th finger
3
Pfeiffer
syndrome
(acrofacial
dysostosis)
Craniosynostosis,
brachycephaly,
acrocephaly, occ.
cloverleaf skull,
fused vertebral
bodies
Occ. dilation of ventricle
Depressed nasal
bridge, hypertelorism,
occ.
choanal atresia
Broad thumbs and
bigtoes, partial syndactyly
4
Pierre Robin
sequence, p.270
Potter sequence
Occ. neural tube
defects
Occ. wideningof
ventricles
Microgenia, cleft
palate
Narrow thorax
5
340