ultrasound diagnosis of fatal anomalies

KLIPPEL–TRÉNAUNAY–WEBER SYNDROME
Baxi L, Warren W, Collins MH, Timor TI. Early detection
of caudal regression syndrome with transvaginal
scanning. Obstet Gynecol 1990; 75: 486–9.
Das BB, Rajegowda BK, Bainbridge R, Giampietro PF.
Caudal regression syndrome versus sirenomelia: a
case report. J Perinatol 2002; 22: 168–70.
Fukada Y, Yasumizu T, Tsurugi Y, Ohta S, Hoshi K. Caudal
regression syndrome detected in a fetus with increased
nuchal translucency. Acta Obstet Gynecol
Scand 1999; 78: 655–6.
Houfflin V, Subtil D, Cosson M, et al. Prenatal diagnosis
of three caudal regression syndromes associated
with maternal diabetes. J Gynecol Obstet Biol Reprod
(Paris) 1996; 25: 389–95.
Loewy JA, Richards DG, Toi A. In-utero diagnosis of the
caudal regression syndrome: report of three cases.
JCU J Clin Ultrasound 1987; 15: 469–74.
Twickler D, Budorick N, Pretorius D, Grafe M, Currarino
G. Caudal regression versus sirenomelia: sonographic
clues. J Ultrasound Med 1993; 12: 323–30.
Valenzano M, Paoletti R, Rossi A, Farinini D, Garlaschi G,
Fulcheri E. Sirenomelia: pathological features, antenatal
ultrasonographic clues, and a review of current
embryogenic theories. Hum Reprod Update
1999; 5: 82–6.
Zaw W, Stone DG. Caudal regression syndrome in twin
pregnancy with type II diabetes. J Perinatol 2002; 22:
171–4.
Klippel–Trénaunay–Weber Syndrome
Definition: This is a complex malformation involving
the blood vessels; it consists of arteriovenous
malformations, cutaneous hemangiomas
or lymphangiomas, unilateral hypertrophy
especially segmental gigantism of certain
body parts (angio-osteohypertrophic syndrome).
Incidence: Rare.
Sex ratio: M:F=1:1.
Clinical history/genetics: Sporadic occurrence.
Teratogen: Not known.
Ultrasound findings: Localized enlargement of
one or more extremities, or of the torso. The long
bones are asymmetrical. Cystic lesions on the
body surface (lymphangiomas) are occasionally
found. Severe arteriovenous anastomoses lead
to cardiac failure and fetal hydrops due to high
volume overload. Associated anomalies include
hemangiomas of the gastrointestinal tract or of
the retroperitoneal region and asymmetrical facial
hypertrophy. The earliest diagnosis was
made at 15 weeks, after detection of a tumor on
the thoracic wall.
Differential diagnosis: Cystic hygroma, disseminated
hemangioma syndrome, Maffucci syndrome,
Proteus syndrome, sacrococcygeal teratoma,
Turner syndrome.
Clinical management: Karyotyping is essential.
Further ultrasound scanning, including fetal
echocardiography. Magnetic resonance imaging
can confirm the diagnosis in difficult cases. If
signs of cardiac insufficiency develop in the
Fig. 11.12 Klippel–Trénaunay–Weber syndrome.
Cross-section of the fetal thorax at 32 weeks. Severe
multicystic lesions are demonstrated in the subcutaneous
tissue.
4
251