ultrasound diagnosis of fatal anomalies

SELECTED SYNDROMES AND ASSOCIATIONS
References
Fernandez CO, McFarland RD, Timmons C, Ramus R,
Twickler DM. MURCS association: ultrasonographic
findings and pathologic correlation. J Ultrasound
Med 1996; 15: 867–70.
Geipel A, Berg C, Germer U, et al. Diagnostic and therapeutic
problems in a case of prenatally detected
fetal hydrocolpos. Ultrasound Obstet Gynecol 2001;
18: 169–72.
Kubik HR, Wisser J, Stallmach T, Ladd ME, Meier A,
Marincek B. Prenatal diagnosis of fetal malformations
by ultrafast magnetic resonance imaging. Prenat
Diagn 1998; 18: 1205–8.
Nager Syndrome (Acrofacial Dysostosis)
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Definition: This disorder consists of mandibulofacial
dysostoses with hypoplasia of the extremities,
especially involving the upper limbs.
Incidence: Very rare; only 70 cases have been described.
Origin/genetics: Sporadic occurrence is the most
frequent form. Autosomal-dominant forms with
variable expression, as well as autosomal-recessive
forms, are possible.
Clinical features: Growth restriction is common;
mild to moderate mental impairment, respiratory
and feeding disturbances such as those seen
in Pierre Robin sequence are also possible. Facial
dysmorphism (mandibulofacial dysostosis) is
characteristic: deep-set and malformed ears,
relative deafness, cleft lip and palate. Anomalies
of the thumb (triphalangia, hypoplasia, aplasia),
hypoplasia of the radius, radioulnar synostoses,
and phocomelia may be evident. Maldevelopment
of the lower limbs is also possible. Additional
anomalies of the heart and kidneys are
rare.
Ultrasound findings: According to one report, diagnosis
was possible at 30 weeks on the basis of
hydramnios, hypoplasia of the radius, and mandibular
anomalies.
Differential diagnosis: Treacher–Collins syndrome,
acrofacial dysostosis of the postaxial
type and other mandibular or acrofacial dysostosis,
Cornelia de Lange syndrome, EEC syndrome,
Fanconi anemia, femur–fibula–ulna syndrome,
Holt–Oram syndrome, multiple pterygium syndrome,
Mohr syndrome, Pena–Shokeir syndrome,
Pierre Robin sequence, Roberts syndrome,
TAR syndrome, trisomy 18.
Prognosis: Facial features may become less
marked as the infant gets older. Surgical treatment
may help improve disturbed hearing. Respiratory
complications such as those seen in
Pierre Robin sequence may be evident at the
neonatal stage.
Self-Help Organization
Title: Foundation for Nager and Miller Syndromes
Description: Networking for families that are
affected by Nager or Miller Syndromes. Provides
referrals, library of information, phone
support, newsletter, brochures, scholarships
for Camp About Face.
Scope: International
Founded: 1989
Address: 1827 Grove St., Glenview, IL60025–
2913, United States
Telephone: 1–800–507–3667
Fax: 847–724–6449
E-mail: fnms@interaccess.com
Web: http://www.fnms.net
References
Benson CB, Pober BR, Hirsh MP, Doubilet PM. Sonography
of Nager acrofacial dysostosis syndrome in utero.
J Ultrasound Med 1988; 7: 163–7.
Hecht JT, Immken LL, Harris LF, Malini S, Scott CI Jr. The
Nager syndrome. Am J Med Genet 1987; 27: 965–9.
Satoh S, Takashima T, Takeuchi H, Koyanagi T, Nakano H.
Antenatal sonographic detection of the proximal
esophageal segment: specific evidence for congenital
esophageal atresia. J Clin Ultrasound 1995; 23:
419–23.
Zori RT, Gray BA, Bent-Williams A, Driscoll DJ, Williams
CA, Zackowski JL. Preaxial acrofacial dysostosis
(Nager syndrome) associated with an inherited and
apparently balanced X;9 translocation: prenatal and
postnatal late replication studies. Am J Med Genet
1993; 46: 379–83.
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