ultrasound diagnosis of fatal anomalies

APPENDIX
Table 19.2
(Continue)
Disorder
Skull/vertebral
column
Central nervous
system
Facial findings
Neck/hygroma
colli
Extremities,
skeleton
Hydrolethalus
syndrome, p. 239
Neural tube defects
Widening of ventricle
Microgenia, cleft lip
and palate, deepset
ears
Club feet, polydactyly,
doubling of
great toe
Hypochondroplasia,
p.156
Macrocephaly, occ.
frontal bossing,
narrowing of the
lumbar spinal
column
Occ. cataract
Mild shortening of
long bones (3rd
trimester), occ. polydactyly
of feet
Infantile polycystic
kidney
disease
Microgenia
Ivemark
syndrome (II)
CNS anomalies
Jarcho–Levin
syndrome
Anomalies of vertebral
bodies, kyphoscoliosis,
absent or
fused ribs, occ.
neural tube defects
Joubert
syndrome
Dandy–Walker
malformation
Microgenia Hygroma colli Polydactyly
1
Klippel–Feil
sequence
Fused cervical
vertebrae, kyphoscoliosis,
spina
bifida occulta
Occ. hydrocephalus
Short neck, occ.
cleft palate, microphthalmia
Anomalies of ribs
2
Klippel–
Trenaunay
syndrome,p.251
Kniest dysplasia
Thoracic kyphoscoliosis
Occ. asymmetrical
facial hypertrophy
Exophthalmos, flattened
nasal bridge,
frequently cleft
palate
Limb hypertrophy,
asymmetry
Short limbs; appear
to arise directly from
joints
3
Larsen
syndrome, p. 253
Dysraphia, scoliosis,
vertebral anomalies
Depressed nose,
cleft palate, hypertelorism,
occ. cleft
lip
Hyperextension of
knee, dislocation of
hip, knee and elbow,
club feet
4
LEOPARD
syndrome
Hypertelorism,
progenia
Occ. skeletal anomalies
5
336