title: Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review.
abstract: We describe a family with lacrimo-auriculo-dento-digital syndrome (LADD). A 13-year-old boy had cup-shaped ears, deafness, unilateral choanal atresia, bilateral nasolacrimal duct obstruction, xerostomia, alacrima due to congenital absence of lacrimal glands, agenesis of salivary glands, chronic dacryocystitis, keratoconjunctivitis sicca, ptosis, nail dysplasia of the thumb, shortness of fifth toe, temporal bone abnormality and epilepsy. His younger sister had shortened middle phalanx of fifth digits. His middle sister had hypodontia, shortened distal phalanx of fifth digit, agenesis of salivary glands, mild hearing loss and exotropia. His older sister had left nasolacrimal duct obstruction and aplasia of both parotid glands. The oldest sister had hypodontia and divergent excess exotropia. His mother had hypodontia. These findings are consistent with LADD syndrome. An autosomal dominant pattern of inheritance with variable expressivity has been demonstrated. Renal and uro-genital anomalies have been noted variably.
authors.affiliation: Department of Ophthalmology, Afyon Kocatepe University, School of Medicine, Afyon, Turkey.
authors.forename: Umit Ubeyt
authors.initials: UU
authors.lastname: Inan
authors.forename: Mustafa Deniz
authors.initials: MD
authors.lastname: Yilmaz
authors.forename: Yavuz
authors.initials: Y
authors.lastname: Demir
authors.forename: Bumin
authors.initials: B
authors.lastname: Degirmenci
authors.forename: Sitki Samet
authors.initials: SS
authors.lastname: Ermis
authors.forename: Faruk
authors.initials: F
authors.lastname: Ozturk
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D002754:Choanal Atresia / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D005192:Family Health; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D008297:Male; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014071:Tooth Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology