Literature DB >> 946410

The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition.

R J Hay, R S Wells.   

Abstract

Seven patients from four families are reported who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects and cleft lip and palate. The ectodermal defects were partial or complete hair loss, absent or dystrophic nails, pointed widely spaced teeth and partial anhidrosis. Associated anomalies included lacrimal duct atresia, supernumerary nipples, syndactyly and auricular deformities. The inheritance of this abnormality was consistent with that of an autosomal dominant trait. The relationship between this and similar syndromes is discussed.

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Year:  1976        PMID: 946410     DOI: 10.1111/j.1365-2133.1976.tb04384.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN: 0007-0963            Impact factor:   9.302


  25 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

2.  A neonate with denuded skin: Hay-Wells syndrome.

Authors:  Abhay Lodha; Eugene Ng
Journal:  CMAJ       Date:  2004-07-20       Impact factor: 8.262

3.  Hay-wells syndrome of ectodermal dysplasia.

Authors:  M L Kulkarni; Shilpa Deshmukh; Deepa Matani; K Gayatri
Journal:  Indian J Pediatr       Date:  2006-01       Impact factor: 1.967

4.  [Fused eyelids in a neonate with ventricular septal defect. Diagnosis: AFA].

Authors:  M Varde; J Roider
Journal:  Ophthalmologe       Date:  2008-02       Impact factor: 1.059

5.  [Ankyloblepharon filiforme adnatum].

Authors:  M Haustein; F Reschke; N Terai; A Lesczcynska; K Wozniak; L E Pillunat; F Sommer
Journal:  Ophthalmologe       Date:  2014-02       Impact factor: 1.059

6.  PROGRESSIVE ISOLATED PARTIAL ANHIDROSIS.

Authors:  Plk DE Sylva; K M Shah; C C Varma
Journal:  Med J Armed Forces India       Date:  2017-06-26

7.  The EEC syndrome and its ocular manifestations.

Authors:  A A McNab; M J Potts; R A Welham
Journal:  Br J Ophthalmol       Date:  1989-04       Impact factor: 4.638

8.  p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

Authors:  H van Bokhoven; B C Hamel; M Bamshad; E Sangiorgi; F Gurrieri; P H Duijf; K R Vanmolkot; E van Beusekom; S E van Beersum; J Celli; G F Merkx; R Tenconi; J P Fryns; A Verloes; R A Newbury-Ecob; A Raas-Rotschild; F Majewski; F A Beemer; A Janecke; D Chitayat; G Crisponi; H Kayserili; J R Yates; G Neri; H G Brunner
Journal:  Am J Hum Genet       Date:  2001-07-17       Impact factor: 11.025

9.  Ankyloblepharon filiforme adnatum in trisomy 18 (Edwards's syndrome).

Authors:  D I Clark; A Patterson
Journal:  Br J Ophthalmol       Date:  1985-06       Impact factor: 4.638

10.  Syndrome in question. Hay-Wells syndrome.

Authors:  Vanessa Mello Tonolli; Hamilton Ometto Stolf; Cláudio Sampieri Tonello; Rafaelle Batistella Pires; Luciana Patricia Fernandes Abbade
Journal:  An Bras Dermatol       Date:  2014 Mar-Apr       Impact factor: 1.896

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