Literature DB >> 4078868

Phenotypic variation in LADD syndrome.

E Thompson, M Pembrey, J M Graham.   

Abstract

A mother and son are reported with chronic dacrocystitis, cup shaped ears, hearing loss, abnormal teeth, and poor formation of saliva and tears. They are similar to previously reported cases of lacrimo-auriculo-dento-digital (LADD) syndrome. The variability of expression of this autosomal dominant syndrome is discussed, and it is suggested that poor saliva and tear formation be added to the phenotype.

Entities:  

Mesh:

Year:  1985        PMID: 4078868      PMCID: PMC1049483          DOI: 10.1136/jmg.22.5.382

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  5 in total

1.  Normal values for selected physical parameters: an aid to syndrome delineation.

Authors:  M Feingold; W H Bossert
Journal:  Birth Defects Orig Artic Ser       Date:  1974

2.  The lacrimo-auriculo-dento-digital syndrome.

Authors:  D W Hollister; S H Klein; H J De Jager; R S Lachman; D L Rimoin
Journal:  J Pediatr       Date:  1973-09       Impact factor: 4.406

3.  The lacrimo-auriculo-dento-digital syndrome.

Authors:  E L Shiang; L B Holmes
Journal:  Pediatrics       Date:  1977-06       Impact factor: 7.124

4.  Mesoectodermal dysplasia. A new combination of anomalies.

Authors:  W J Levy
Journal:  Am J Ophthalmol       Date:  1967-05       Impact factor: 5.258

5.  Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.

Authors:  F C Fraser; J R Sproule; F Halal
Journal:  Am J Med Genet       Date:  1980
  5 in total
  10 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.  Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.

Authors:  D Lacombe; F Serville; D Marchand; J Battin
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

4.  Salivary Gland Dysplasia in Fgf10 Heterozygous Mice: A New Mouse Model of Xerostomia.

Authors:  A J May; L Chatzeli; G B Proctor; A S Tucker
Journal:  Curr Mol Med       Date:  2015       Impact factor: 2.222

Review 5.  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

6.  LADD syndrome: report of new cases and review of the clinical spectrum.

Authors:  H R Wiedemann; J Drescher
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

7.  A requirement for Fgfr2 in middle ear development.

Authors:  Diana Rigueur; Ryan R Roberts; Lauren Bobzin; Amy E Merrill
Journal:  Genesis       Date:  2018-10-04       Impact factor: 2.487

8.  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

9.  An Essential Requirement for Fgf10 in Pinna Extension Sheds Light on Auricle Defects in LADD Syndrome.

Authors:  Yang Zhang; Juan M Fons; Mohammad K Hajihosseini; Tianyu Zhang; Abigail S Tucker
Journal:  Front Cell Dev Biol       Date:  2020-12-10

10.  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
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.