ultrasound diagnosis of fatal anomalies

SELECTED SYNDROMES AND ASSOCIATIONS
Self-Help Organization
Title: VACTERL Association
Description: Support, encouragement and resources
for parents, grandparents and siblings
of children or adults with VACTERL association.
Founded: 1992
Address: The Vater Connection, 1722 Yucca
Lane, Emporia, KS66801, United States
Telephone: 316–342–6954
Web: http://www.vaterconnection.org
Scope: Online
Web: http://onelist.com/group/vacterlassn
Title: TEF/VATER Support Network (Connection)
Description: Offers support and encouragement
for parents of children with tracheoesophageal
fistula, esophageal atresia, and
VATER. Aims to bring current information to
parents and the medical community. Newsletter,
information and referrals, phone support.
Scope: International
Number of groups: Six groups
References
Blane CE, Barr M, DiPietro MA, Sedman AB, Bloom DA.
Renal obstructive dysplasia: ultrasound diagnosis
and therapeutic implications. Pediatr Radiol 1991;
21: 274–7.
Brons JT, van der Harten HJ, van Geijn HP, et al. Prenatal
ultrasonographic diagnosis of radial-ray reduction
malformations. Prenat Diagn 1990; 10: 279–88.
Cuschieri A. Anorectal anomalies associated with or as
part of other anomalies. Am J Med Genet 2002; 110:
122–30.
Krapp M, Geipel A, Germer U, Krokowski M, Gembruch
U. First-trimester sonographic diagnosis of distal
urethral atresia with megalourethra in VACTERL association.
Prenat Diagn 2002; 22: 422–4.
Miller OF, Kolon TF. Prenatal diagnosis of VACTERL association.
J Urol 2001; 166: 2389–91.
Van Heurn LW, Cheng W, De Vries B, et al. Anomalies associated
with oesophageal atresia in Asians and
Europeans. Pediatr Surg Int 2002; 18: 241–3.
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Walker–Warburg Syndrome (Lissencephaly Type II)
Definition: This is a fatal disorder consisting of
hydrocephalus, agyria, retinal dysplasia, and encephalocele
(HARDE syndrome).
Incidence: Extremely rare; only 70 cases have
been reported, and one-third of these are familial.
First described in 1971 by Warburg.
Origin/genetics: It is either inherited in an autosomal-recessive
form, or there is a sporadic occurrence
in two-thirds of the cases. Gene locus:
9 q31–33.
Clinical features: There is a severe restriction in
development. Hydrocephalus is present in almost
100% of cases, mostly due to stenosis of the
aqueduct. Dandy–Walker malformation (50%),
agyria (lissencephaly type II), retinal dysplasia,
microphthalmia (38%), cataract (35%), encephalocele
(30%), microcephaly (16%). In addition,
progressive congenital muscle dystrophy
and increased levels of creatine kinase have been
described. Other associated anomalies are: cataract,
hypoplasia of the iris, optic coloboma, cleft
lip and palate, glaucoma, microtia, absence of
the external auditory canal, agenesis of the corpus
callosum, hypoplasia of the white matter of
the brain, and genital anomalies.
Ultrasound findings: In a case with a family history,
the diagnosis was already made in the first
trimester. Most of the cerebral anomalies are
well demonstrated by ultrasound scanning.
However, absence of the cerebral gyri and microcephaly
are first diagnosed at a more advanced
stage in the pregnancy.
Differential diagnosis: Miller–Dieker syndrome
(lissencephaly type I), muscle–eye–brain disease,
Fukuyama congenital muscular dystrophy,
Fryns syndrome, Meckel–Gruber syndrome,
Neu–Laxova syndrome, TORCH infections,
trisomy 13, trisomy 18.
Prognosis: This disorder has a fatal prognosis; on
average, most infants survive up to 9 months,
and a few have survived for some years.
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