A case of Larsen syndrome with severe cervical malformations.
The authors report Larsen Syndrome in a male newborn with severe cervical spine malformations: segmentation abnormalities of the cervical spine and atlanto-axial dislocation. The severity of the cervical malformations occurring more often in the autosomal recessive form is emphasized.
Le Marec
B
B
Service de Pédiatrie-Génétique Médicale, Hôpital Pontchaillou, Rennes.
Chapuis
M
M
Tréguier
C
C
Odent
S
S
Bracq
H
H
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001269:Atlanto-Occipital Joint / Q000002:abnormalities / Q000473:pathology; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005147:Facial Bones / Q000002:abnormalities* / Q000473:pathology; D006618:Hip Dislocation, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D004204:Joint Dislocations / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome