ultrasound diagnosis of fatal anomalies

APPENDIX
Table 19.3
Summary of differential diagnoses in chromosomal disorders
Chromosomal
disorder
Skull/vertebral
column
CNS Facial findings Hygroma colli/neck
4 pdeletion
(Wolf–Hirschhorn
syndrome), p.215
Cranial asymmetry, microcephaly
Agenesis of corpus callosum
Micrognathia, hypertelorism,
cleft lip and/or
cleft palate
11 q deletion
(Jacobsen syndrome),
p.175
Trigonocephaly, microcephaly
Occ. wideningof ventricles,
holoprosencephaly
Hypertelorism, flattened
nasal bridge, micrognathia,
ear anomalies
Tetrasomy 12 p
mosaicism (Pallister–
Killian syndrome), p.
179
Hypoplasia of cerebellum
Facial dysmorphism, hypertelorism,
deep-set ears
Hygroma colli
Triploidy, p. 180 Myelomeningocele Dilation of ventricles,
Dandy–Walker cysts,
agenesis of corpus callosum,
holoprosencephaly
Hypertelorism, microphthalmia,
micrognathia
Cystic hygroma colli
Trisomy 9 mosaicism,
p.186
Microcephaly, neural
tube defects
Anomaly of cerebellum
Cleft lip and/or cleft palate,
micrognathia, microphthalmia
Trisomy 10 mosaicism,
p.187
Hypertelorism, cleft lip and/
or cleft palate, micrognathia
Hygroma colli
Trisomy 13 (Patau
syndrome), p.187
Microcephaly, neural
tube defect
Holoprosencephaly,
wideningof ventricles, dilation
of cisterna magna,
agenesis of corpus callosum
Cleft lip and palate, hypoplasia
of mid-face, cyclopia,
hypotelorism, microphthalmia
Hygroma colli
1
Trisomy 18 (Edwards
syndrome), p.193
Occ. meningomyelocele
Agenesis of corpus callosum,
cysts of choroid
plexus, anomalies of posterior
fossa, occ. ventricular
dilation
Micrognathia, deep-set ears,
hypertelorism, occ. cleft lip
and palate
Cystic hygroma colli
2
Trisomy 21
(Down syndrome),
p. 204
Brachycephaly Wideningof ventricles Flat facial profile, small ears Hygroma colli
Trisomy 22 Cleft lip and palate Occ. hygroma colli
3
Turner syndrome
(45, XO), p.211
Cystic hygroma colli
4
5
348