ultrasound diagnosis of fatal anomalies

APPENDIX
Table 19.2
(Continue)
Disorder
Skull/vertebral
column
Central nervous
system
Facial findings
Neck/hygroma
colli
Extremities,
skeleton
Prune belly
sequence
Roberts
syndrome
Microcephaly, occ.
craniosynostosis
Occ. wideningof
ventricles, encephalocele
Microgenia, cleft
lip, hypertelorism,
occ. microphthalmia,
cataract
Occ. cystic hygroma
Phocomelia, short
radius, hypoplasia or
aplasia of femur, tibia
and fibula, flexion
contractures of all
limb joints
Rokitansky–
Küster–Mayer
complex
Russell–Silver
syndrome, p.272
Relative microcephaly
Frontal bossingAsymmetry, shortened
longbones, syndactyly
(2nd and 3rd
toes), clinodactyly
Saldino–Noonan
and Naumoff
syndrome (SRPS
types I and III),
p. 168
Occ. CNS anomalies
Cleft lip and palate,
flattened nasal
bridge
Micromelia, polydactyly,
very short ribs,
narrow thorax
Schinzel–Giedion
syndrome
Shortened skull
base, intercalated
bone
Flatteningof midface,
choanal atresia
Postaxial polydactyly,
club feet
1
Seckel syndrome Microcephaly Occ. agenesis of
corpus callosum
Microgenia, prominent
nose
Deformities of knee
and hips, dislocation
of joints (head of
radius)
2
Shprintzen
syndrome
Microcephaly
Occ. holoprosencephaly
Microgenia, cleft
palate, occ. Pierre
Robin sequence
Shorteningof long
bones
3
Simpson–
Golabi–Behmel
syndrome
Sirenomelia
Macrocephaly
Anomalies of
vertebrae (lumbar,
sacrum)
Potter face
Occ. hexadactyly
Severely deformed
and fused lower limbs
4
5
342