Literature DB >> 2012123

Alveolar synechia, ankyloblepharon, and ectodermal disorders: an autosomal recessive disorder?

M Ohishi1, S Kai, S Ozeki, H Tashiro.   

Abstract

A male patient with alveolar synechia and ankyloblepharon filiforme adnatum is reported. He also had bilateral commissural lip pits, inferiorly attached frenulum, generalized hypoplastic nails, and wooly scalp hair. He was a product of consanguineous parents. The disease seemed to be an autosomal recessive syndrome with heterozygote expression.

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Year:  1991        PMID: 2012123     DOI: 10.1002/ajmg.1320380104

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


  2 in total

1.  Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome?

Authors:  A Seres-Santamaria; J L Arimany; F Muñiz
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

2.  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
  2 in total

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