ultrasound diagnosis of fatal anomalies

ARTHROGRYPOSIS MULTIPLEX CONGENITA
have all been observed. The distal forms are
more likely to occur in families, but sporadic occurrence
is also possible.
Teratogens: Hyperthermia, perinatal infections,
mother suffering from myasthenia gravis.
Classification and ultrasound finding: The
classification of arthrogryposis is still disputed.
A primary condition is known, in addition to secondary,
symptomatic disorders (of neuromuscular
or central nervous system origin, mainly due
to infections). Three basic forms of arthrogryposis
are identified: 1, only the extremities are affected;
2, a generalized neuromuscular disorder
is present; 3, the central nervous system is involved.
The limbs are typically fixed in a certain
position; the legs may be stretched or bent, the
arms are bent. “Clenched fists” may be observed.
The feet are stretched or appear clubbed. Hypoplasia
of muscular tissue is evident. Fetal movement
is restricted or totally absent. Swelling of
the limbs is an accompanying feature. In some
cases, the disorder first becomes evident as late
as in the third trimester. Hydramnios is seen
frequently. In 10% of the cases, anomalies of the
central nervous system such as agenesis of the
corpus callosum, lissencephaly, ventriculomegaly,
or aplasia of the cerebellar vermis
are associated.
Associated syndromes: Over 120 syndromes are
known to occur concomitantly with arthrogryposis,
such as Freeman–Sheldon syndrome, mul-
Fig. 8.2 Arthrogryposis multiplex congenita.
Cross-section of the fetal thorax at 21 + 6 weeks, with
arthrogryposis sequence: hydrothorax, severe subcutaneous
edema (anasarca).
Fig. 8.3 Arthrogryposis multiplex congenita. Dorsoanterior
longitudinal section of a fetal thorax in
fetal arthrogryposis sequence at 21 + 6 weeks, showing
severe anasarca.
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