ultrasound diagnosis of fatal anomalies

SELECTED SYNDROMES AND ASSOCIATIONS
References
Dix U, Beudt U, Langenbeck U. Fryns syndrome: pre- and
postnatal diagnosis. Z Geburtshilfe Perinatol 1991;
195: 280–4.
Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR,
Golabi M. Congenital diaphragmatic defects and associated
syndromes, malformations, and chromosome
anomalies: a retrospective study of 60 patients
and literature review. Am J Med Genet 1998; 79: 215–
25.
Hösli IM, Tercanli S, Rehder H, Holzgreve W. Cystic hygroma
as an early first-trimester ultrasound marker
for recurrent Fryns’ syndrome. Ultrasound Obstet
Gynecol 1997; 10: 422–4.
Meinecke P, Fryns JP. The Fryns syndrome: diaphragma;
tic defects, craniofacial dysmorphism, and distal digital
hypoplasia: further evidence for autosomal-recessive
inheritance. Clin Genet 1985; 28: 516–20.
Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B,
Rehder H. Variability in the phenotypic expression of
Fryns syndrome: a report of two sibships. Am J Med
Genet 2000; 95: 415–24.
Sheffield JS, Twickler DM, Timmons C, Land K, Harrod
MJ, Ramus RM. Fryns syndrome: prenatal diagnosis
and pathologic correlation. J Ultrasound Med 1998;
17: 585–9.
Van Wymersch D, Favre R, Gasser B. Use of three-dimensional
ultrasound to establish the prenatal diagnosis
of Fryns syndrome. Fetal Diagn Ther 1996; 11: 335–
40.
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Goldenhar Syndrome
Definition: This is a group of malformations consisting
of facial asymmetry, anomalies of the
eyes, ears and cheeks. It may also be combined
with defects in the vertebral column.
Incidence: One in 3000–5000 births.
Origin/genetics: This is a heterogeneous and
complex malformation syndrome. The occurrence
is mostly sporadic—for example, due to restricted
placenta perfusion at a sensitive stage of
development. There is a disturbance in the
development of the first and second branchial
arches. Rarely, autosomal-dominant or autosomal-recessive
inheritance has been observed.
Males are more often affected. With one affected
child, there is a 3% risk of recurrence; if two siblings
are affected, the risk rises to 6%.
Clinical features and ultrasound findings: Asymmetrical
face resulting from unilateral hypoplasia
of bone and soft tissue, frontal bossing, hypoplasia
of zygomatic arch and mandibular
bone, retrogenia. Malformations of the eye:
epibulbar dermoid or lipodermoid at the junction
of the sclera and cornea, coloboma of the
upper lid. Malformations of the ear: preauricular
tags, small ears, anomalies of the external ear.
Further anomalies include: unilateral microstomia,
cleft jaw, partial vertebral scoliosis.
Development of hydramnios is frequent. In addition,
cardiac defects, renal anomalies and
widening of the cranial ventricles are also detected.
The main finding is slight facial dysmorphism
and hydramnios. The earliest diagnosis
was reported at 16 weeks on the basis of maxillary
clefts and unilateral microphthalmia.
Associated syndromes: Mandibulofacial dysostosis,
hemifacial microsomia, Wildervanck syndrome,
Frase syndrome, Fryns syndrome, Klippel–Pfeil
sequence, Nager syndrome, Treacher–
Collins syndrome, trisomy 13 and 18.
Prognosis: This is usually favorable, with normal
mental development and intelligence. Cosmetic
surgery is needed to correct the facial anomalies.
Physical handicap may result due to deafness
and microphthalmia.
Self-Help Organization
Title: Goldenhar Syndrome Support Network
Description: Support and information for
families affected by Goldenhar syndrome
(hemifacial microsomia). Information and referrals,
newsletter, literature, pen pals, and
advocacy. Online mailing list.
Scope: International network
Founded: 1998
Address: 9325 163 Street, Edmonton, Alberta
T5 R 2 P4, Canada
E-mail: bbds.page@i.am
Web: http://www.goldenharsyndrome.org
References
De Catte L, Laubach M, Legein J, Goossens A. Early prenatal
diagnosis of oculoauriculovertebral dysplasia
or the Goldenhar syndrome. Ultrasound Obstet
Gynecol 1996; 8: 422–4.
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