ultrasound diagnosis of fatal anomalies

SELECTED SYNDROMES AND ASSOCIATIONS
Russell–Silver Syndrome
Definition: This is characterized by intrauterine
and postnatal growth restriction, a large skull,
small face, microgenia, asymmetrical body
stature with short upper limbs as well as clinobrachydactyly
of the small finger.
Prognosis: This is mostly favorable. Normal
mental development is common. Psychomotor
developmental disturbances have been described.
Short stature with a variable adult
height is expected.
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Incidence: Rare; only 200 cases have been reported.
Origin/genetics: Mostly sporadic; sex chromosomal
dominant, autosomal-dominant or recessive
inheritance appears in 10%. Gene locus: the
long arm of chromosome 17 (17q25). In 10% of
cases, maternal uniparental disomy of chromosome
7, gene locus: 7 p12 –p11.2 is found. Variable
expression.
Clinical features: Congenital short stature, relatively
large skull (pseudohydrocephalus), small
triangular face, short philtrum, mouth with thin
lips, microretrogenia, adult height 150 cm. Premature
puberty is possible due to high
gonadotropin levels. Asymmetrical body
development: the long bones are small and
asymmetrical. Mental impairment is seen in
15%. In some cases, the disorder may first become
manifest after birth.
Ultrasound findings: Biometric measurements
in the second trimester demonstrate shortening
of the long bones. The thoracic cavity appears
narrow, and underdeveloped musculature may
also be diagnosed. Careful ultrasound scanning
may also reveal clinodactyly of the fifth finger as
well as syndactyly of the second and third toes.
Singular umbilical artery may be associated with
this syndrome. The placenta may be enlarged.
Differential diagnosis: Floating Harbor syndrome,
Rubinstein–Taybi syndrome, Dubowitz
syndrome, SHORT syndrome.
Self-Help Organization
Title: Russell–Silver Syndrome Support Network
Description: Network and exchange of information
for parents of children with Russell–
Silver syndrome. Information and referrals,
phone support, pen pals, conferences, annual
convention, literature. Newsletter.
Scope: National network
Founded: 1989
Address: c/o MAGIC Foundation, 1327 N. Harlem,
Oak Park, IL 60303, United States
Telephone: 1–800–3-MAGIC-3 or 708–383–
0808
Fax: 708–383–0899
E-mail: mary@magicfoundation.org
Web: http://www.magicfoundation.org
References
del Campo Casanelles M, Perez Jurado L. [Non-Mendelian
genetics and growth: the Russell–Silver syndrome;
in Spanish.] An Esp Pediatr 2001; 54: 531–5.
Martinez Nogueiras A, Teixeira Costeira M, Saraiva
Moreira H, Araujo Antunes H. [Russell–Silver syndrome;
in Spanish.] An Esp Pediatr 2001; 54: 591–4.
Parlato M, Del Core G. [Russell–Silver syndrome:
aspects of odontomaxillofacial significance; in Italian.]
Arch Stomatol (Napoli) 1989; 30: 461–6.
Peinado Garrido A, Borja Perez C, Narbona Lopez E, Contreras
Chova F, Jerez Calero A, Miras Baldo M. [Intrauterine
dwarfism and dysmorphic features: a case
of Russell–Silver syndrome; in Spanish.] An Esp Pediatr
2001; 54: 588–90.
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