Craniosynostosis associated with ectopia lentis in monozygotic twin sisters.
Ectopia lentis has rarely been reported to occur in association with craniosynostosis, and this was found only in sporadic cases. We report on twin sisters who underwent surgery for craniosynostosis and later on, at age 3 years, were found to have bilateral ectopia lentis. Molecular studies yielded a probability of monozygosity of more than 0.98. Inheritance of the syndrome may be autosomal dominant, possibly due to a new mutation, autosomal recessive, or X-linked with male lethality.
Cruysberg
J R
JR
Institute of Ophthalmology, University Hospital Nijmegen, The Netherlands.
van Ravenswaaij-Arts
C M
CM
Pinckers
A
A
Roddi
R
R
Brunner
H G
HG
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D003398:Craniosynostoses / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D003937:Diagnosis, Differential; D004200:Diseases in Twins / Q000235:genetics*; D004479:Ectopia Lentis / Q000150:complications* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D008382:Marfan Syndrome / Q000175:diagnosis; D011859:Radiography; D015898:Tomography Scanners, X-Ray Computed; D014430:Twins, Monozygotic / Q000235:genetics*