Literature DB >> 2225531

Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies.

A M Roodhooft1, C C Brussaard, E Elst, K J van Acker.   

Abstract

A patient who presented with most features of lacrimo-auriculo-dento-digital (LADD) syndrome, an autosomal dominant trait, is described. There was no deafness, and anomalies of the external ear and the upper limbs were discrete. Renal anomalies, consisting of progressive caliectasis with stone formation, were revealed by macroscopic hematuria. There were also skeletal anomalies of both feet, a feature not previously described. Renal and distal limb anomalies are probably features of LADD syndrome.

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Year:  1990        PMID: 2225531     DOI: 10.1111/j.1399-0004.1990.tb03574.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  6 in total

Review 1.  Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature.

Authors:  Young Hye Ryu; Jong Kyun Chae; Jung-Wook Kim; Soyoung Lee
Journal:  Mol Genet Genomic Med       Date:  2020-07-26       Impact factor: 2.183

Review 2.  Lacrimo-auriculo-dento-digital syndrome with unilateral inner ear dysplasia and craniocervical osseous abnormalities: case report and review of literature.

Authors:  J E Moses
Journal:  Clin Neuroradiol       Date:  2012-08-24       Impact factor: 3.649

3.  Deletions of chromosomal regulatory boundaries are associated with congenital disease.

Authors:  Jonas Ibn-Salem; Sebastian Köhler; Michael I Love; Ho-Ryun Chung; Ni Huang; Matthew E Hurles; Melissa Haendel; Nicole L Washington; Damian Smedley; Christopher J Mungall; Suzanna E Lewis; Claus-Eric Ott; Sebastian Bauer; Paul N Schofield; Stefan Mundlos; Malte Spielmann; Peter N Robinson
Journal:  Genome Biol       Date:  2014-09-04       Impact factor: 13.583

Review 4.  Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient.

Authors:  G J McKenna; F M Burke; K Mellan
Journal:  Eur Arch Paediatr Dent       Date:  2009-11

5.  A Case of Lacrimo-Auriculo-Dento-Digital Syndrome with Multiple Congenitally Missing Teeth.

Authors:  Lumbini Pathivada; Munagala Karthik Krishna; Mandeep Rallan
Journal:  Case Rep Dent       Date:  2016-10-10

6.  Lacrimo-auriculo-dento-digital syndrome: A case report and literature review.

Authors:  Reem Alhamadi; Sahar M Elkhamary; Azza Maktabi; Hamad M AlSulaiman; Silvana A Schellini
Journal:  Saudi J Ophthalmol       Date:  2022-02-18
  6 in total

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