[Management of a short femur discovered via ultrasound in utero. Prenatal diagnosis of Stuve-Wiedemann syndrome].
The authors report a case of familial Stuve-Wiedemann syndrome where the diagnosis was made in utero. Following this case the authors discuss the management of short femur discovered by ultrasound. The analysis of the morphology, the ultrasound appearance and the radiographic appearance (X-ray of the uterine contents) may make it possible sometimes to diagnose the syndrome. An important element is a study of the genealogy to discover the way in which a large number of these bone diseases are transmitted. The prognosis for life is very variable according to the severity of the syndrome.
Philippe
H J
HJ
Service de Gynécologie-Obstétrique, CHI Léon-Touhladjian, Poissy.
Paupe
A
A
Dompeyre
P
P
Lenclen
R
R
Nisand
I
I
D000328:Adult; D000886:Anthropometry; D003937:Diagnosis, Differential; D005097:Exostoses, Multiple Hereditary / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011379:Prognosis; D013577:Syndrome; D016216:Ultrasonography, Prenatal
Conduite à tenir devant la découverte échographique d'un fémur court in utero. A propos d'un diagnostic anténatal de syndrome de Stuve-Wiedemann.