ultrasound diagnosis of fatal anomalies

APPENDIX
Table 19.2
(Continue)
Disorder
Skull/vertebral
column
Central nervous
system
Facial findings
Neck/hygroma
colli
Extremities,
skeleton
Fanconi anemia Occ. microcephaly Occ. widening of
ventricles, agenesis
of corpus callosum
Femur–fibula–
ulna (FFU) complex
Short radius, finger
anomalies
Hypoplasia or absence
of femur and
fibula, especially unilateral;
absence of
arms, finger anomalies,
missing fingers
Femur hypoplasia–facial
dysmorphism
syndrome
Anomalies of vertebral
bodies, sacral
dysplasia
Microgenia, cleft
palate, deep-set
ears
Shortened and bent
femur (also unilateral),
occ. humeral
hypoplasia, club feet
Fraser syndrome
Cryptophthalmus,
anomalies of nose
and ear, stenosis or
atresia of larynx,
facial clefts
Syndactyly
Freeman–Sheldon
syndrome
(whistling face),
p. 245
Microcephaly,
kyphoscoliosis
Raised forehead,
narrownose, deepset
ears, long philtrum,
small mouth
Ulna deviation of
hands, flexion deformities
of fingers,
contractures of hips
and knees, club feet
1
Fryns syndrome
Widening of ventricles,
Dandy–
Walker cysts,
agenesis of corpus
callosum
Microgenia, cleft
lip, cleft palate, ear
anomalies, occ.
microphthalmia
Occ. cystic
hygroma, fetal
hydrops
Occ. hypoplasia of
fingers
2
Goldenhar
symptom complex,
p.248
Hemivertebrae
(cervical and
thoracic)
Occ. widening of
ventricles
Mandibular hypoplasia,
facial asymmetry,
microphthalmia,
ear anomalies,
facial clefts
3
Goltz–Gorlin
syndrome
Microcephaly,
vertebral anomalies
Ventricle dilation,
calcification of falx
cerebri, occ. agenesis
of corpus callosum
Short 4th metacarpal,
rib deformities,
scoliosis, syndactyly,
polydactyly
Hallermann–
Streiff syndrome
Vertebral anomalies,
scoliosis
Microgenia
4
5
Holt–Oram
syndrome,p.249
Occ. vertebral
anomalies
Phocomelia, radial
hypoplasia, humeral
and ulnar anomalies,
absent thumb, syndactyly,
anomaly of
clavicle
334