Literature DB >> 1536181

Ankyloblepharon filiforme adnatum.

A H Weiss1, G Riscile, B G Kousseff.   

Abstract

We treated 4 infants with ankyloblepharon filiforme adnatum (AFA), an uncommon anomaly in which the apposing eyelid margins are connected by abnormal tissue strands. One infant had AFA alone, one had Hay-Wells syndrome, characterized by ectodermal dysplasia, and the other 2 had chromosome abnormalities, trisomy 18, and complex chromosome rearrangement, with visceral malformations. Despite heterogeneity and phenotypic variability, these developmental abnormalities shared (1) involvement of tissues growing in apposition and (2) temporal overlap of their occurrence. This suggests a common defect in the mechanism(s) that regulate tissue fusion at multiple sites during development.

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Year:  1992        PMID: 1536181     DOI: 10.1002/ajmg.1320420324

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  [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

2.  Complex chromosome rearrangement with ankyloblepharon filiforme adnatum.

Authors:  B G Kousseff; P Papenhausen; Y P Essig; M P Torres
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

3.  Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome.

Authors:  Ajay Chopra; Debdeep Mitra; Renu Kandpal; Reetu Agarwal
Journal:  Int J Trichology       Date:  2018 Jan-Feb
  3 in total

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