[The difficulty of prenatal diagnosis of Kniest's disease. Apropos of a case simulating congenital spondylo-epiphyseal dysplasia].
The second antenatal diagnosis of Kniest's syndrome is described in this report. This skeletal dysplasia involving disproportional dwarfism and a flat facies is compatible with life and normal intelligence. The authors describe the observed sonographic imagery and emphasize the important role of ultrasonography for antenatal evaluation of the prognosis of the skeletal dysplasias. The main differential diagnosis is spondylo-epiphyseal dysplasia congenita.
Kerleroux
J
J
Centre d'explorations ultrasonores, Annecy.
Roux
M S
MS
Cottin
X
X
D000328:Adult; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000000981:diagnostic imaging*; D005147:Facial Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000000981:diagnostic imaging*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
La difficulté du diagnostic anténatal de la maladie de Kniest. A propos d'un cas simulant la dysplasie spondylo-épiphysaire congénitale.