ultrasound diagnosis of fatal anomalies

HYDROLETHALUS
Dillon E, Renwick M, Wright C. Congenital diaphragmatic
herniation: antenatal detection and outcome.
Br J Radiol 2000; 73: 360–5.
Tamas DE, Mahony BS, Bowie JD, Woodruff WW HH.
Prenatal sonographic diagnosis of hemifacial microsomia
(Goldenhar–Gorlin syndrome). J Ultrasound
Med 1986; 5: 461–3.
Witters I, Schreurs J, Van Wing J, Wouters W, Fryns JP.
Prenatal diagnosis of facial clefting as part of the
oculo-auriculo-vertebral spectrum. Prenat Diagn
2001; 21: 62–4.
Holt–Oram Syndrome
Definition: This syndrome consists of anomalies
of the heart and upper limbs.
Incidence: Rare, although over a hundred cases
have been reported.
First described in 1960 by Holt and Oram.
Origin/genetics: Autosomal-dominant inheritance
with full penetrance and variable expression.
New mutations are found in 50–80%. Gene
locus: 12 q24.1. Girls are more severely affected
than boys.
Ultrasound findings: Cardiac anomalies (85%):
ASD II (partially combined with cardiac arrhythmia);
rarely VSD. Malformations of the upper extremities:
three digits or hypoplasia or aplasia of
the thumb, dysplasia or aplasia of the radius, and
anomalies of the small finger, elbow, and
shoulder joint. Occasionally, radioulnar synostosis,
hypoplasia of the humerus, and phocomelia
have also been observed. Diagnosis is possible in
the second trimester after careful scanning of
the lower arm and thumb.
Hydrolethalus
Definition: This is a fatal complex of malformations,
with hydrocephalus and other cranial
anomalies, facial dysmorphism, including facial
clefts, polydactyly of the hands and feet, and pulmonary
hypoplasia.
Incidence: In Finland, one in 20 000 births. Incidences
in African and Arabic families has also
been reported. About 60 cases have been described.
First description: 28 cases were reported in Finland
in 1981.
Differential diagnosis: TAR syndrome, Fanconi
anemia, thalidomide syndrome, Tabatznik syndrome,
Rogers syndrome, Cornelia de Lange syndrome,
Nager syndrome, trisomy 13 and 18,
VACTERL association.
Prognosis: This depends on the type of cardiac
anomaly present; normal mental development
can be expected.
References
Brons JT, van Geijn HP, Wladimiroff JW, et al. Prenatal ultrasound
diagnosis of the Holt–Oram syndrome. Prenat
Diagn 1988; 8: 175–81.
Lehner R, Wenzl R, Vanura H, Frank W Safar P, Husslein
P. Diagnosis of familial Holt–Oram syndrome. Z Geburtshilfe
Perinatol 1994; 198: 143–9.
Muller LM, De Jong G, Van Heerden KM. The antenatal
ultrasonographic detection of the Holt–Oram syndrome.
S Afr Med J 1985; 68: 313–5.
Tongsong T, Chanprapaph P. Prenatal sonographic diagnosis
of Holt–Oram syndrome. J Clin Ultrasound
2000; 28: 98–100.
Genetics: Autosomal-recessive inheritance.
Ultrasound findings: Growth restriction, hydramnios
(obligatory finding). Head and face:
hydrocephalus (93%), agenesis of the corpus callosum,
absence of the septum pellucidum,
Dandy–Walker malformation; cleft palate, cleft
lip (56%), microgenia (84%), small tongue, which
may even be absent. Thorax: tracheobronchial
malformations (65%), abnormal pulmonary
lobes; cardiac defects (58%): VSD, AV canal. Extremities:
polydactyly (88%), club feet. Diagnosis
is possible as early as at 13 weeks (central
nervous system anomalies with limb defects).
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