Literature DB >> 8411079

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

A Seres-Santamaria1, J L Arimany, F Muñiz.   

Abstract

Hay and Wells in 1976 reported seven patients from four families who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects, and cleft lip and palate. The inheritance pattern was determined to be autosomal dominant. This condition is known as AEC syndrome or Hay-Wells syndrome. We report a family with two sibs showing some of these features and congenital adhesions between the upper and lower jaws (alveolar synechiae). There seems to be a recessive pattern of inheritance as neither of the parents has any features of the syndrome. This could be described as a recessive form of Hay-Wells syndrome with additional features or be named as a new syndrome.

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Year:  1993        PMID: 8411079      PMCID: PMC1016541          DOI: 10.1136/jmg.30.9.793

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


  6 in total

1.  Ectodermal dysplasia.

Authors:  D ROSSELLI; R GULIENETTI
Journal:  Br J Plast Surg       Date:  1961-10

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

Authors:  R J Hay; R S Wells
Journal:  Br J Dermatol       Date:  1976-03       Impact factor: 9.302

3.  Ankyloblepharon filiforme adnatum: congenital eyelid-band syndromes.

Authors:  Y Rosenman; S Ronen; A I Eidelman; M S Schimmel
Journal:  Am J Dis Child       Date:  1980-08

4.  Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.

Authors:  P Bowen; H B Armstrong
Journal:  Clin Genet       Date:  1976-01       Impact factor: 4.438

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

Authors:  M Ohishi; S Kai; S Ozeki; H Tashiro
Journal:  Am J Med Genet       Date:  1991-01

6.  Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome.

Authors:  S L Greene; V V Michels; J A Doyle
Journal:  Am J Med Genet       Date:  1987-05
  6 in total
  1 in total

1.  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
  1 in total

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