Linked Life Data

16460812

Source:http://linkedlifedata.com/resource/pubmed/id/16460812

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2006-5-29
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0165-5876
pubmed:author
pubmed:issnType
Print
pubmed:volume
70
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1307-14
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review.
pubmed:affiliation
Department of Ophthalmology, Afyon Kocatepe University, School of Medicine, Afyon, Turkey.
pubmed:publicationType
Journal Article, Review, Case Reports