ultrasound diagnosis of fatal anomalies

SELECTED SYNDROMES AND ASSOCIATIONS
Clinical features: Symmetrical short stature;
mental impairment may be mild to moderate.
Typical facial features: widening of the interorbital
distance, epicanthus, axis of the eyelids
pointing downwards (antimongoloid), ptosis,
microgenia. In addition, a low neck hairline,
pterygium (differential diagnosis: Turner syndrome),
cutis laxa, deep-set ears, raised palate.
Thorax: shield chest, pectus excavatum; pulmonary
stenosis, and other cardiac anomalies, pigment
anomalies such as café-au-lait spots. Occasionally,
lymphedema of the hands and feet.
Ultrasound findings: In the first trimester, nuchal
edema is the most typical feature, and it
may also present as cystic hygroma. Cardiac
anomalies such as pulmonary stenosis are well
diagnosed. If a cystic hygroma is detected in a
fetus with a normal set of chromosomes, then the
diagnosis of Noonan syndrome is most likely.
Self-Help Organization
Title: Noonan Syndrome Support Group
Description: Provides information for persons
with Noonan syndrome, their families, and
other interested individuals. Networks individuals
together for peer support. Information
and referrals, speakers bureau, telephone
helpline.
Scope: International network
Founded: 1996
Address: P.O. Box 145, Upperco, MD 21155,
United States
Telephone: 1–888–686–2224 or 410–374–
5245
E-mail: info@noonansyndrome.org
Web: http://www.noonansyndrome.org
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Differential diagnosis: Ulrich–Turner syndrome,
LEOPARD syndrome, Aarskog syndrome, neurofibromatosis–Noonan
syndrome, trisomy 18,
trisomy 21, achondrogenesis, Apert syndrome,
Cornelia de Lange syndrome, EEC syndrome,
Joubert syndrome, Kniest syndrome, multiple
pterygium syndrome, Pena–Shokeir syndrome,
Roberts syndrome, Smith–Lemli–Opitz syndrome.
Clinical management: Further ultrasound
screening, including fetal echocardiography.
Genitals should be inspected carefully. Karyotyping.
Prognosis: This depends on the severity of the
cardiac lesion and mental development. Only
mild mental impairment is expected in 25% of
cases. The affected individuals often have a tendency
to bleed easily. In some cases, the diagnosis
is confirmed in the mother after the birth of a
severely affected infant.
References
Benacerraf BR, Greene ME Holmes LB. The prenatal
sonographic features of Noonan’s syndrome. J Ultrasound
Med 1989; 8: 59–63.
Bradley E, Kean L, Twining P, James D. Persistent right
umbilical vein in a fetus with Noonan’s syndrome: a
case report. Ultrasound Obstet Gynecol 2001; 17:
76–8.
Cullimore AJ, Smedstad KG, Brennan BG. Pregnancy in
women with Noonan syndrome: report of two cases.
Obstet Gynecol 1999; 93: 813–6.
Grote W, Weisner D, Janig U, Harms D, Wiedemann HR.
Prenatal diagnosis of a short-rib-polydactylia syndrome
type Saldino–Noonan at 17 weeks’ gestation.
Eur J Pediatr 1983; 140: 63–6.
Hiippala A, Eronen M, Taipale P, Salonen R, Hiilesmaa V.
Fetal nuchal translucency and normal chromosomes:
a long-term follow-up study. Ultrasound Obstet
Gynecol 2001; 18: 18–22.
Hill LM, Leary J. Transvaginal sonographic diagnosis of
short-rib polydactyly dysplasia at 13 weeks’ gestation.
Prenat Diagn 1998; 18: 1198–201.
Menashe M, Arbel R, Raveh D, Achiron R, Yagel S. Poor
prenatal detection rate of cardiac anomalies in
Noonan syndrome [review]. Ultrasound Obstet
Gynecol 2002; 19: 51–5.
Zarabi M, Mieckowski GC, Mazer J. Cystic hygroma associated
with Noonan’s syndrome. JCU J Clin Ultrasound
1983; 11: 398–400.
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