ultrasound diagnosis of fatal anomalies

APPENDIX
Table 19.2
Summary of differential diagnoses of fetal anomalies, in order of organs involved or body region affected
Disorder
Skull/vertebral
column
Central nervous
system
Facial findings
Neck/hygroma
colli
Extremities,
skeleton
Aarskog syndrome
Craniosynostosis or
anomalies of cervical
vertebrae
Round face, hypertelorism,
mid face
hypoplasia, short,
broad nose, nostrils
pointing to the
front
Slim hands and feet,
hypoplasia of endphalanges,
very short
5th finger
Aase syndrome
Occ. cleft lip and
palate
Fetal hydrops in
presence of anemia
Thumb with three
phalanges, radius
aplasia
Achondrogenesis,
p.147
Large head, reduction
or absence of
ossification in skull
and vertebral
column
Microgenia
Hygroma colli,
possibly hydrops
Short limbs, short
ribs, reduced mineralization,
of the bones,
narrowthorax
Achondroplasia,
p. 148
Frontal bossing,
large head, increased
lumbar lordosis
Occ. widening of
ventricles
Flattened nasal
bridge
Short femurs and
humerus, trident
hands, fingers equally
long
Adrenogenital
syndrome type 3
Alpha-thalassemia
(Hb Bart)
Hydrops
1
Amnion band
sequence,p.149
Encephalocele,
anencephaly
Microgenia,
facial clefts
Asymmetric amputation
of limbs, occ.
only constriction ring,
club feet, clenched
fist
2
3
4
Apert syndrome,
p. 236
Arthrogryposis
multiplex congenita,p.150
Craniosynostosis,
brachycephaly,
acrocephaly, flattened
skull, fusion
of cervical vertebrae
5 and 6
Occ. microcephaly
Agenesis of corpus
callosum, widening
of ventricles
Occ. widening of
ventricles, lissencephaly,
agenesis of
corpus callosum
and vermis
Flat face, hypertelorism
1st trimester
Syndactyly (2nd, 3rd,
and 4th fingers),
broad thumb and toe,
occ. anomalies of
long bones
Fixed limbs, mostly
bent, overextended
knees, club feet,
clenched fist, overlapping
index finger, reduced
movement
5
Asphyxiating
thorax dysplasia
(Jeune)
Shortening of long
bones (2nd–/3rd
trimester), narrow
thorax, short ribs,
occ. polydactyly
328