Midline facial defects with ocular colobomata.
We describe 5 children with midline facial anomalies and iris colobomata reminiscent of frontonasal "dysplasia." Two patients have, in addition, abnormalities of the eyelids and one of them probably has the rare autosomal recessive condition frontofacionasal "dysplasia." The patients may have a new syndrome of midline facial defects, iris colobomata, and mental retardation.
Department of Clinical Genetics, Hospitals for Sick Children, London, England.
I K
IK
Temple
H
H
Brunner
B
B
Jones
J
J
Burn
M
M
Baraitser
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D003103:Coloboma / Q000150:complications* / Q000235:genetics; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006972:Hypertelorism / Q000150:complications / Q000235:genetics; D007223:Infant; D007498:Iris / Q000002:abnormalities*; D008297:Male; D009666:Nose / Q000002:abnormalities; D013577:Syndrome