ultrasound diagnosis of fatal anomalies

POLYDACTYLY
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Polydactyly
Definition: This is defined as extra fingers or
toes. It may be postaxial (findings on the ulna or
fibula side), or preaxial (findings on the side of
radius or tibia).
Incidence: Postaxial: one in 3000; in those with
African ancestry, one in 300. Preaxial: one in
7000.
Sex ratio: M:F=1.5:1.
Clinical history/genetics: Postaxial forms are
mostly autosomal-dominant; preaxial forms are
usually unilateral and sporadic.
Teratogens: Alcohol, valproic acid, diabetes mellitus.
Associated malformations: Over 100 syndromes
have been described featuring polydactyly.
Associated syndromes: Trisomy 13, Smith–
Lemli–Opitz syndrome, hydrolethalus, Joubert
syndrome, Meckel–Gruber syndrome, orofaciodigital
syndrome type II, Mohr syndrome,
Ellis–van Creveld syndrome, hypochondroplasia,
short rib–polydactyly syndrome, Carpenter
syndrome, VACTERL association.
Ultrasound findings: The hands and/or feet
show an extra finger or toe, which may consist of
bony parts and appear normal, or may be bent. If
the bony part is absent, it is difficult to diagnose
this anomaly in a prenatal scan.
Fig. 8.21 Polydactyly. Isolated familial postaxial
hexadactyly involving all limbs at 25 + 2 weeks. This
figure shows a hand. No other anomalies were found.
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