Central nervous system malformations in the CHARGE association.
Of 144 patients with the CHARGE association (literature 136, new patients 8), 47 (33%) had either a postmortem examination (30) or computerized axial tomography scan (17) of the head. Twenty-six of 47 (55%) had definite central nervous system (CNS) malformations; arhinencephaly, with or without other defects (11), holoprosencephaly (2), holoprosencephaly with arhinencephaly (1), other forebrain defects (3), hindbrain defects (3), or other defects (6). The presence of CNS malformation was most strongly associated with choanal atresia. This review demonstrates a predominance of forebrain anomalies, particularly arhinencephaly and holoprosencephaly, which may provide a clue to the mechanism of abnormal morphogenesis involved in CHARGE association.
Lin
A E
AE
Department of Medical Genetics, Western Pennsylvania Hospital, Pittsburgh 15224.
Siebert
J R
JR
Graham
J M
JM
D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities*; D002754:Choanal Atresia; D003103:Coloboma; D003638:Deafness; D004423:Ear / Q000002:abnormalities; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006130:Growth Disorders; D006330:Heart Defects, Congenital; D016142:Holoprosencephaly; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D013577:Syndrome