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4/2017
vol. 119 abstract:
Case report
The case of familial occurrence of lacrimal atresia in lacrimo-auriculo-dento-digital syndrome
Ewelina Chojnacka
1
,
Radosław Różycki
1
,
Artur Maliborski
2
,
Maciej R. Krawczyński
3
,
Marek Rękas
1
Online publish date: 2018/06/05
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Lacrimo-auriculo-dento-digital syndrome, also known as Levy-Hollister syndrome, is a rare disease characterized by anomalies affecting lacrimal system, salivary glands, limbs, teeth and ears. It may occur sporadically or be inherited as an autosomal dominant trait. Other findings involve renal and genitourinary tract abnormalities or facial dysmorphia. The aim of the current paper is to present the cases of patients with features of lacrimo-auriculo-dento-digital syndrome, who underwent surgery for lacrimal atresia. There is a high phenotypic variability even among members of the same family. Our patients presented mainly with lacrimal, salivary and dental abnormalities. Differential diagnosis should include other genetic disorders. Genetic counseling helps identify genetic risk and prognosis.
keywords:
lacrimo-auriculo-dento-digital syndrome (LADD syndrome, Levy-Hollister syndrome), lacrimal atresia, salivary glands aplasia |
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