ultrasound diagnosis of fatal anomalies

APPENDIX
Table 19.2
(Continue)
Disorder
Skull/vertebral
column
Central nervous
system
Facial findings
Neck/hygroma
colli
Extremities,
skeleton
Smith–Lemli–
Opitz syndrome,
p. 273
Microcephaly
Occ. hypoplasia of
cerebellum
Occ. microgenia,
cleft palate, cataract
1st trimester
Clenched fist, pes
valgus, syndactyly
(2nd and 3rd toes),
polydactyly
Sotos syndrome Macrocephaly Discrete dilation of
ventricles
Oversized hands and
feet
Spondyloepiphyseal
dysplasia
Shorteningof
vertebral column
Relatively longlimbs,
normal-sized hands
and feet
Thanatophoric
dysplasia, p.171
Cloverleaf skull
Flattened nasal
bridge
Bent and extreme
shorteningof long
bones, fibulae shorter
than tibiae, narrow
thorax
Thrombocytopenia–absent
radius syndrome,
p. 277
Occ. vermis hypoplasia
Occ. microgenia
Bilateral absence of
radii with hypoplasia
or absence of ulnae in
presence of thumbs,
abnormal humerus,
anomalies and dislocation
of lower limbs
1
2
3
Townes–Brocks
syndrome (anus–
hand–ear)
Treacher–Collins
syndrome
Microtia, ear tags,
occ. microgenia,
cleft lip and palate
Microgenia, ear
anomaly, ear tags,
choanal atresia,
cleft palate,
notchingof eyelids,
underdevelopment
of cheek bone
Polydactyly, thumb
with three phalanges,
absence of thumb,
occ. absent toes,
rarely aplasia of
radius
Tuberous
sclerosis, p.278
Intracranial calcifications
4
VACTERL association,
p.279
Hemivertebrae,
scoliosis, occ. spinal
dysraphism
Hypoplasia or aplasia
of radius, occ. polydactyly,
syndactyly,
anomalies of lower
limbs
5
344