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Limbal Stem Cell Deficiency Associated With LADD Syndrome
Arch Ophthalmol. 2005;123:691-694.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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The lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant hereditary disease with variable expression. It was first described in 1967 by Levy1 as an isolated case of bilateral absence of the tear system, cup-shaped ears, dry mouth, and dental, arm, and digital abnormalities. Subsequently, new clinical findings such as renal anomalies, absent salivary glands, congenital hip dislocation, congenital hiatal and diaphragmatic hernias, sensory and conductive deafness, hypodontia, limb anomalies, xerostomia, and xerophthalmia were described associated with this syndrome.
Thirty-five cases of LADD syndrome are described in the literature and most of them include ocular involvement. In particular, 71% showed hypoplasia or aplasia of the tear glands, hypoplasia or aplasia of the lacrimal puncta or canaliculi, and 64% showed tear deficiency, recurrent or chronic conjunctivitis, keratoconjunctivitis sicca, and corneal ulcerations related to the underlying tear gland aplasia.2-3
We describe, for the first time, limbal stem cell deficiency and corneal hypoanesthesia in 2 . . . [Full Text of this Article] Report of a Case
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AUTHOR INFORMATION
Magdalena Cortes, MD;
Alessandro Lambiase, MD;
Marta Sacchetti, MD;
Silvia Aronni, MD;
Stefano Bonini, MD
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