Fibrotic eye muscles, Axenfeld anomaly, flat face, and mild developmental retardation: a new example of the Chitty syndrome.
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.
Van Daele
S G
SG
Department of Pediatrics, Ghent University, School of Medicine, Belgium.
Van Coster
R N
RN
Meire
F
F
Smets
A M
AM
Leroy
J G
JG
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D002658:Developmental Disabilities; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013577:Syndrome