Fronto-ocular syndrome: newly recognized trigonocephaly syndrome.
We describe an apparently unique disorder, Fronto-Ocular syndrome, present in a mother and her two daughters, and comprising trigonocephaly due to coronal and metopic craniosynostosis, ocular hypotelorism, ocular proptosis and ptosis, epicanthal folds, hypoplastic supraorbital ridges, elevated nasal bridge, thin philtrum, high-arched palate and a narrow bifrontal region. Both daughters have glabellar capillary hemangiomas, a congenital heart defect and mild developmental disabilities. Review of the literature failed to disclose any syndrome with similar findings. It is likely that this disorder represents an autosomal dominant condition, that arose as a new mutation in the mother. Mutational analysis of fibroblast growth factor receptor (FGFR) 1 and FGFR2 failed to identify the molecular basis of the disorder.
Schneider
E N
EN
Department of Pediatrics, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY 10467, USA.
Bogdanow
A
A
Goodrich
J T
JT
Marion
R W
RW
Cohen
M M
MM
D000328:Adult; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology*; D003398:Craniosynostoses; D002658:Developmental Disabilities / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009666:Nose / Q000002:abnormalities; D010375:Pedigree; D013577:Syndrome