ultrasound diagnosis of fatal anomalies

SELECTED SYNDROMES AND ASSOCIATIONS
Fig. 11.21 Meckel–Gruber syndrome. Hexadactyly
of the foot in Meckel–Gruber syndrome at
12+6weeks.
Fig. 11.22 Meckel–Gruber syndrome. Fetus after
termination of the pregnancy, showing occipital encephalocele.
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tion, facial dysmorphism is also seen: cleft lip,
cleft palate, microphthalmia, hypertelorism,
macrostomia, anomaly of the tongue, narrow
chin, deep-set ears, short neck. Cardiac and genital
anomalies are also seen. Diagnosis has been
possible at 11 weeks after detection of encephalocele
and polydactyly.
Differential diagnosis: Potter sequence, trisomy
13, hydrolethalus, Smith–Lemli–Opitz syndrome,
infantile polycystic kidney disease,
Joubert syndrome, Mohr syndrome, short rib–
polydactyly syndrome.
Prognosis: About one-third of the fetuses are
stillborn. In almost all cases, death occurs within
3 h after birth.
References
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