TY - JOUR
T1 - Fibrotic eye muscles, Axenfeld anomaly, flat face, and mild developmental retardation
T2 - A new example of the Chitty syndrome
AU - Van Daele, Sabine G.
AU - Van Coster, Rudy N.
AU - Meire, Françoise
AU - Smets, Anne M.
AU - Leroy, Jules G.
PY - 1996/10/28
Y1 - 1996/10/28
N2 - We have studied a girl with fibrotic extrinsic eye muscles, Axenfeld anomaly, unusual facial appearance, mild hydrocephaly, and neurodevelopmental delay. Her condition is similar to the one described recently in members of a single family by Chitty et al. [1991, Am J Med Genet 40:417-420]. We suggest that she represents a second example of what may be called the Chitty syndrome.
AB - We have studied a girl with fibrotic extrinsic eye muscles, Axenfeld anomaly, unusual facial appearance, mild hydrocephaly, and neurodevelopmental delay. Her condition is similar to the one described recently in members of a single family by Chitty et al. [1991, Am J Med Genet 40:417-420]. We suggest that she represents a second example of what may be called the Chitty syndrome.
KW - Axenfeld anomaly
KW - Mobius sequence
KW - deficient eye movement
KW - fibrotic eye muscles
UR - http://www.scopus.com/inward/record.url?scp=2742610400&partnerID=8YFLogxK
U2 - https://doi.org/10.1002/(SICI)1096-8628(19961028)65:3<205::AID-AJMG6>3.0.CO;2-O
DO - https://doi.org/10.1002/(SICI)1096-8628(19961028)65:3<205::AID-AJMG6>3.0.CO;2-O
M3 - Article
C2 - 9240744
SN - 0148-7299
VL - 65
SP - 205
EP - 208
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 3
ER -