Sirenomelia, the mermaid syndrome--detection in the first trimester.
The sirenomelia sequence with fusion, rotation, hypotrophy or atrophy of the lower limbs in combination with severe urogenital and gastrointestinal malformations is a rare and usually lethal disorder. We present the case of a 28-year-old woman, who was referred to our department because of an intraabdominal cystic structure in the 9th week of gestation. Subsequent scans confirmed the diagnosis of a sirenomelia sequence with the fusion of the lower extremities without fusion of the bones according to Stocker I classification. The size of the intraabdominal cyst decreased during follow-up. After counseling, termination of pregnancy was induced. The postmortem X-ray confirmed the ultrasound diagnosis. The exact etiological mechanism of this malformation is still unknown. An early alteration of the embryological vascular network damaging the caudal mesoderm is thought to lead to arrested development of the lower limbs and other affected organs. The cyst we saw in the 9th week might fit with this theory, either as an expression of the complex malformation of the lower abdomen or as the sonographic appearance of necrosis.
Schiesser
Monika
M
University Women's Hospital, Basel, Switzerland. mschiesser@uhbs.ch
Holzgreve
Wolfgang
W
Lapaire
Olav
O
Willi
Nils
N
Lüthi
Hans
H
Lopez
Roberto
R
Tercanli
Sevgi
S
D000025:Abortion, Eugenic; D000328:Adult; D004480:Ectromelia / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000209:etiology; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal