Vertebral defects as an unusual mode of presentation of 22q11.2 deletion.
Faivre
L
L
Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, CHU Dijon, France. laurence.faivre@chu-dijon.fr
Masurel-Paulet
A
A
Callier
P
P
Mejean
N
N
Gay
S
S
Grimaldi
M
M
Mugneret
F
F
Huet
F
F
Thauvin-Robinet
C
C
D000328:Adult; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011859:Radiography; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging