ultrasound diagnosis of fatal anomalies

APPENDIX
Table 19.2
(Continue)
Disorder
Skull/vertebral
column
Central nervous
system
Facial findings
Neck/hygroma
colli
Extremities,
skeleton
Atelosteogenesis
Abnormal vertebral
bodies, platyspondyly,
narrow
thorax
Depressed nasal
bridge, microgenia
Short limbs, reduced
mineralization, bent
long bones, absence
of fibula, club feet,
contractures
Baller–Gerold
syndrome
Craniosynostosis,
vertebral body malformation
Occ. hydrocephalus,
polymicrogyria,
agenesis of corpus
callosum
Hypertelorism, pronounced
nasal
bridge, microgenia
or progenia, cleft
palate
Mostly symmetrical
anomaly of radius,
hypoplasia of ulna,
club hand, absence of
thumb
Beckwith–
Wiedemann
syndrome, p. 239
Macroglossia
Camptomelic
dysplasia, p.157
Occ. large biparietal Dilation of ventricle Cleft palate, hypertelorism,
occ. microgenia,
depressed
nasal bridge
Bent femurs and tibias,
fibula hypoplasia,
club feet, bellshaped
thorax, hypoplasia
of scapula
Cantrell’s
pentalogy
Occ. neural tube
defects
Occ. facial anomalies
Hygroma colli
1
Carpenter syndrome
Craniosynostosis,
brachycephaly,
acrocephaly (often
asymmetrical)
Depressed nasal
bridge, microgenia,
deep-set ears
Clinodactyly,
syndactyly,
polydactyly
2
Caudal dysplasia
(caudal regression
syndrome),
p. 250
Agenesis or dysgenesis
of os
sacrum, anomalies
of lumbar vertebrae,
pelvis defects,
occ. neural tube defects
Occ. facial clefts
Femur hypoplasia,
club feet, flexion contractures
of lower
limbs, reduced movements
of lower limbs
3
4
5
CHARGE association,p.241
Hypoplasia of nose,
occ. ear anomalies,
microgenia, cleft lip
or palate, hypertelorism,
microphthalmia
Chondrodysplasia
punctata
Occ. widening of
ventricle, Dandy–
Walker variant
Occ. microcephaly Cataracts Symmetrical shortening
of proximal long
bones, joint contractures,
increased
dotted mineralization
of epiphysis
330