ultrasound diagnosis of fatal anomalies

SELECTED SYNDROMES AND ASSOCIATIONS
tals: underdevelopment of the penis, hypospadias,
cryptorchism, occasionally pseudohermaphroditism.
Extremities: Syndactyly of the
second and third toes, possibly postaxial hexadactyly,
malpositioning of the fingers and
toes, pathological muscle tone. Other anomalies
include: cataract, cleft palate, cranial, cardiac
and urogenital anomalies. The affected individuals
show hyperexcitability and tend to suffer
from frequent infections.
Ultrasound findings: Thickening of the nuchal
fold is a characteristic feature at 12 weeks. There
is a discrepancy between the karyotype (male)
and appearance of genitals on scanning
(female); this may provide the first clue. In addition,
microcephaly, growth restriction, facial and
limb anomalies can be demonstrated during the
progress of the pregnancy.
Differential diagnosis: Meckel–Gruber syndrome,
Ellis–van Creveld syndrome, Joubert syndrome,
Mohr syndrome, short rib–polydactyly
syndrome, trisomy 13, Carpenter syndrome,
CHARGE association, Cornelia de Lange syndrome.
Prognosis: This is unfavorable, especially regarding
mental development. Frequently, death
occurs soon after birth or in early infancy.
Fig. 11.44 Smith–Lemli–Opitz syndrome. Fetal
profileat21+4weeks(courtesy of Dr. Lebek).
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Fig. 11.45 Smith–Lemli–Opitz syndrome. Fetal
heart, showing a membranous VSD at 21 weeks in a
fetus with Smith–Lemli–Opitz syndrome (courtesy of
Dr. Lebek).
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