ultrasound diagnosis of fatal anomalies

SELECTED SYNDROMES AND ASSOCIATIONS
Self-Help Organization
Title: Freeman–Sheldon Parent Support
Group
Description: Emotional support for parents of
children with Freeman–Sheldon and for
adults with this syndrome. Sharing of helpful
medical literature library. Information on
growth and development of individuals affected.
Participates in research projects.
Members network by phone and mail. Newsletter.
Scope: International network
Founded: 1982
Address: 509E. Northmont Way, Salt Lake
City, UT 84 103, United States
Telephone: 801–364–7060
E-mail: fspsg@aol.com
Web: http://www.fspsg.org
References
Cruickshanks GF, Brown S, Chitayat D. Anesthesia for
Freeman–Sheldon syndrome using a laryngeal mask
airway. Can J Anaesth 1999; 46: 783–7.
Krakowiak PA, O’Quinn JR, Bohnsack JF, et al A variant of
Freeman–Sheldon syndrome maps to 11 p15.5-pter.
Am J Hum Genet 1997; 60: 426–32.
Krakowiak PA, Bohnsack JF, Carey JC, Bamshad M. Clinical
analysis of a variant of Freeman–Sheldon syndrome
(DA2 B). Am J Med Genet 1998; 76: 93–8.
Manji KP, Mbise RL. Generalized muscle hypertonia
with mask-like face (Freeman–Sheldon syndrome)
in a Tanzanian girl. Clin Genet 1998; 54: 252–3.
Robbins-Furman P, Hecht JT, Rocklin M, Maklad N,
Greenhaw G, Wilkins I. Prenatal diagnosis of
Freeman–Sheldon syndrome (whistling face). Prenat
Diagn 1995; 15: 179–82.
Robinson PJ. Freeman–Sheldon syndrome: severe upper
airway obstruction requiring neonatal tracheostomy
[review]. Pediatr Pulmonol 1997; 23: 457–9.
Schefels J, Wenzl TG, Merz U, et al. Functional upper airway
obstruction in a child with Freeman–Sheldon
syndrome. ORL J Otorhinolaryngol Relat Spec 2002;
64: 53–6.
Schrander-Stumpel C, Fryns JP, Beemer FA, Rive FA. Association
of distal arthrogryposis, mental retardation,
whistling face, and Pierre Robin sequence: evidence
for nosologic heterogeneity. Am J Med Genet
1991; 38: 557–61.
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Fryns Syndrome
Definition: This syndrome combines facial dysmorphism,
anomalies of the distal extremities,
and diaphragmatic hernia.
First described in 1979 by Fryns.
Incidence: About one in 15 000 births.
Origin/genetics: Autosomal-recessive inheritance.
Ultrasound findings: Thickening of the neck region
in the form of hygroma colli is evident in the
first trimester. Later on, hydramnios and fetal hydrops
develop. Craniofacial dysmorphism is
characterized by coarse facial features, a prominent
glabella, flat nasal bridge, large nose with
anteverted nostrils, short upper lip, macrostomia,
cleft lip and palate, retrogenia, and dysplasia
of the auricles. A characteristic feature is
diaphragmatic hernia, the posterolateral part
being absent. Malformations of the limbs are
also present: brachytelephalangia (hypoplasia of
the distal phalanges) of the fingers and toes. In
addition, microphthalmia, clouded cornea, retinal
dysplasia, short neck, pterygium, cystic
renal dysplasia, Dandy–Walker malformation,
widening of the cranial ventricles, club feet, cardiac
defects such as VSD, and anal atresia may
also be detected. Diagnosis is possible at the earliest
at 13 weeks due to severe hygroma colli.
Differential diagnosis: Hydrolethalus, Schinzel–
Giedion syndrome, Rüdiger syndrome, Wolf–
Hirschhorn syndrome, tetrasomy 12 p, trisomy
18 and 21, Walker–Warburg syndrome,
achondrogenesis, Apert syndrome, Cornelia de
Lange syndrome, Kniest syndrome, multiple
pterygium syndrome, Noonan syndrome,
Roberts syndrome, Smith–Lemli–Opitz syndrome.
Prognosis: There is a high mortality rate due to
respiratory failure (pulmonary hypoplasia) secondary
to diaphragmatic hernia. In the absence
of the above, infants may survive, but mental impairment
can be expected.
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