A new syndrome associated with absence of lower lid lacrimal punctum, ptosis, elevation deficiency of both eyes and mild facial dysmorphism
Ophthalmic Genetics, cilt.30, sa.3, ss.146-151, 2009 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 30 Sayı: 3
- Basım Tarihi: 2009
- Doi Numarası: 10.1080/13816810902988772
- Dergi Adı: Ophthalmic Genetics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.146-151
- Anahtar Kelimeler: Absence of lacrimal punctum, upper ocular movement limitation, ptosis, facial dysmorphism
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.