ultrasound diagnosis of fatal anomalies

SELECTED SYNDROMES AND ASSOCIATIONS
Crouzon Syndrome (Craniofacial Dysostosis Type I)
Definition: Premature closure of the cranial sutures,
causing characteristic anomalies of the
head and face. The coronal, lambdoid, and sagittal
sutures are mainly affected. The resulting
dysmorphisms include a clover-shaped or
tower-shaped skull, hypoplasia of the midfacial
region, and exophthalmos.
First described in 1912 by Crouzon.
Origin/genetics: Autosomal-dominant inheritance.
Mutation of the fibroblast growth factor receptor-2
gene. Gene locus: 10q25 –q26. New
mutations are observed in about 25% of cases.
Ultrasound findings: These include an abnormally
shaped skull, in severe cases clover-shaped
skull (which is a special form of tower-shaped
head), hypertelorism, beaked nose, micrognathia,
progenia, exophthalmos, possibly combined
with widening of the cerebral ventricles,
agenesis of the corpus callosum, and cleft lip and
palate. If there is a positive family history, it is
possible to diagnose this disorder in the second
trimester on finding widening of the interorbital
distance.
Self-Help Organization
Title: Craniosynostosis and Parents Support,
Inc.
Description: Dedicated to helping families
find support and information to help deal
with craniosynostosis. The aim is to raise
awareness through public and professional
education. Provides a newsletter, literature,
hospital care packages, pen pals, and phone
support. Advocacy, information and referrals.
Supports research.
Scope: International network
Founded: 1999
Address: 1136 Iris Lane, Beaufort, SC 29906,
United States
Telephone: 1–877–686-CAPS
Fax: 843–846–0779
E-mail: CAPS2000@gosiggy.com
Web: http://www.caps2000.org
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Differential diagnosis: Apert syndrome, Carpenter
syndrome, clover-shaped skull, Pfeiffer syndrome,
thanatophoric dysplasia.
Procedure after birth: Surgery is necessary due
to closure of the sutures. Some of the skull deformities
can be corrected in this way. Mental
development is improved after neurosurgical interventions
to reduce intracranial pressure.
Prognosis: Atrophy of the optical nerve may
cause blindness. Respiratory obstruction is also
possible. Fits and mental impairment are rarely
seen.
Ellis–van Creveld Syndrome
Definition: Short-limb dwarfism with hexadactyly,
hypoplasia of the nails, abnormal connection
of the mucous membranes between the
upper lip and upper gum.
References
Kjaer I, Hansen BF, Kjaer KW, Skovby F. Abnormal timing
in the prenatal ossification of vertebral column and
hand in Crouzon syndrome. Am J Med Genet 2000;
90: 386–9.
Leo MV, Suslak L, Ganesh VL, Adhate A, Apuzzio JJ. Crouzon
syndrome: prenatal ultrasound diagnosis by
binocular diameters. Obstet Gynecol 1991; 78: 906–
8.
Martinelli P, Russo R, Agangi A, Paladini D. Prenatal ultrasound
diagnosis of frontonasal dysplasia. Prenat
Diagn 2002; 22: 375–9.
Miller C, Losken HW, Towbin R, et al. Ultrasound diagnosis
of craniosynostosis. Cleft Palate Craniofac J 2002;
39: 73–80.
Incidence: Rare; about 250 cases have been reported;
there is an incidence of one in 200 in the
Amish population (Lancaster County, Pennsylvania,
USA).
First described in 1940.
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