Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome.
The acronym CHARGE defines a non-random clustering of congenital malformations of unknown origin. Classical diagnostic criteria include: 1) one major feature namely coloboma/microphthalmia or choanal atresia, and 2) four of the six features designated in the CHARGE acronym. Interestingly, all CHARGE patients hitherto reported had partial or complete semicircular canal hypoplasia on temporal bone CT-scan. We report on semicircular canal agenesis/hypoplasia in three patients with three to four features of the CHARGE syndrome and neither coloboma nor choanal atresia and we propose to include temporal bone malformations as a major criteria for diagnosis of CHARGE syndrome.
Amiel
J
J
Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
Attieé-Bitach
T
T
Marianowski
R
R
Cormier-Daire
V
V
Abadie
V
V
Bonnet
D
D
Gonzales
M
M
Chemouny
S
S
Brunelle
F
F
Munnich
A
A
Manach
Y
Y
Lyonnet
S
S
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000473:pathology*; D002490:Central Nervous System / Q000002:abnormalities; D002754:Choanal Atresia; D003103:Coloboma; D003937:Diagnosis, Differential; D005260:Female; D005333:Fetus / Q000002:abnormalities; D005835:Genitalia / Q000002:abnormalities; D006130:Growth Disorders; D006330:Heart Defects, Congenital; D006801:Humans; D007223:Infant; D008297:Male; D011247:Pregnancy; D012665:Semicircular Canals / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D014057:Tomography, X-Ray Computed