Literature DB >> 8411061

Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.

D Lacombe1, F Serville, D Marchand, J Battin.   

Abstract

A mother and daughter are reported with apparently dissimilar syndromes. The mother has a split hand/split foot deformity and the daughter a condition consistent with a diagnosis of LADD syndrome. Absence of clefting and deficient formation of saliva and tears are the main signs that differentiate the LADD from the EEC syndrome. However, no distinct feature is constant between these two autosomal dominant disorders that show great phenotypic variability. This report emphasises the overlap between the LADD and the EEC syndromes.

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Year:  1993        PMID: 8411061      PMCID: PMC1016505          DOI: 10.1136/jmg.30.8.700

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


  12 in total

1.  EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3.

Authors:  M B Qumsiyeh
Journal:  Clin Genet       Date:  1992-08       Impact factor: 4.438

2.  Deletion of 7q22 and ectrodactyly.

Authors:  H Rivera; J Sanchez-Corona; V R Burgos-Fuentes; M J Melendez-Ruiz
Journal:  Genet Couns       Date:  1991

3.  Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3.

Authors:  S H Roberts; H E Hughes; S J Davies; A L Meredith
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

4.  LADD syndrome: a distinct entity?

Authors:  R C Hennekam
Journal:  Eur J Pediatr       Date:  1987-01       Impact factor: 3.183

5.  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

6.  Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome. Its association with conductive hearing loss.

Authors:  G C Robinson; L S Wildervanck; T P Chiang
Journal:  J Pediatr       Date:  1973-01       Impact factor: 4.406

7.  EEC syndrome without ectrodactyly? Report of 8 cases.

Authors:  W Küster; F Majewski; P Meinecke
Journal:  Clin Genet       Date:  1985-08       Impact factor: 4.438

8.  Phenotypic variation in LADD syndrome.

Authors:  E Thompson; M Pembrey; J M Graham
Journal:  J Med Genet       Date:  1985-10       Impact factor: 6.318

9.  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

10.  Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies.

Authors:  J S Bamforth; P Kaurah
Journal:  Am J Med Genet       Date:  1992-08-01
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  5 in total

Review 1.  The p63 gene in EEC and other syndromes.

Authors:  H G Brunner; B C J Hamel; H Van Bokhoven
Journal:  J Med Genet       Date:  2002-06       Impact factor: 6.318

Review 2.  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

3.  [The Levy-Hollister syndrome: a syndrome of dysplasias with ENT-manifestations].

Authors:  O Fierek; R Laskawi; C Bönnemann; F Hanefeld
Journal:  HNO       Date:  2003-04-16       Impact factor: 1.284

4.  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

5.  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
  5 in total

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