A new syndrome associated with absence of lower lid lacrimal punctum, ptosis, elevation deficiency of both eyes and mild facial dysmorphism.
A considerable volume of literature has been published on the association of lacrimal outflow dysgenesis with developmental anomalies or systemic syndromes. We report three affected individuals in a consanguineous family those are associated with bilateral ptosis, upper ocular movement limitation, and absence of the lacrimal punctum. T our knowledge, this is the first article reporting the association of bilateral ptosis, facial dysmorphism, upper ocular movement limitation, and absence of the lacrimal punctum in a hereditary form. As a sole example, these findings may be accepted as a new syndrome with autosomal recessive pattern because of consanguinity.
Guran
Sefik
S
Department of Medical Biology, Medical Faculty, Gülhane Military Medical Academy, Ankara, Turkey. sefguran@yahoo.com
Torun
Deniz
D
Mutlu
Fatih Mehmet
FM
Uysal
Yusuf
Y
Ugurel
Mehmet Sahin
MS
Bahce
Muhterem
M
D000328:Adult; D001763:Blepharoptosis / Q000235:genetics*; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D008297:Male; D015835:Ocular Motility Disorders / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D055815:Young Adult