Prenatal diagnosis of a 'minor' form of Brachmann-de Lange syndrome by three-dimensional sonography and three-dimensional computed tomography.
Brachmann-de Lange syndrome is a congenital disease characterized by severe mental retardation, pre- and postnatal symmetric growth delay, limb defects, visceral anomalies, hirsutism, and a typical face. The authors describe the prenatal sonographic pattern of Brachmann-de Lange syndrome suspected at 20 weeks of gestation, with severe intrauterine growth retardation, facial dysmorphism, cardiac abnormality, and micromelia without the typical defects of the upper limbs. Fetal karyotyping was normal. The diagnosis of a 'minor' form of Brachmann-de Lange syndrome was confirmed at 28 weeks of gestation by using three-dimensional sonography in order to assess precisely the facial dysmorphism and by performing a three-dimensional computed tomography of the upper limbs in order to identify the subtle abnormalities of the radial head and of the first metacarpal bone.
Le Vaillant
Claudine
C
Department of Obstetrics and Fetal Medicine, University Hospital Mère et Enfant, Nantes, France.
Quere
Marie-Pierre
MP
David
Albert
A
Berlivet
Marc
M
Boog
Georges
G
D000328:Adult; D003635:De Lange Syndrome / Q000000981:diagnostic imaging*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D021621:Imaging, Three-Dimensional / Q000379:methods*; D007223:Infant; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014057:Tomography, X-Ray Computed / Q000379:methods; D014463:Ultrasonography