Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome
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منابع مشابه
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome in monozygotic twins: two cases report and reviews.
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (or Hay-Wells syndrome) is a rare congenital malformation. Our first cases were a pair of female monozygotic twins with AEC syndrome at Srinagarind Hospital. In this study, we describe monozygotic female twins concordant for ankyloblephaon, ectodermal dysplasia and helical rim deformities, but discordant for cleft, syndactyly of...
متن کاملRare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome
Ankyloblepharon-ectodermal defect-cleft lip/cleft palate (AEC) syndrome is one of the variants of ectodermal dysplasia. It is an autosomal dominant disorder comprising of ankyloblepharon, ectodermal dysplasia, and cleft palate or cleft lip. In 1976, it wasfirst described by Hay and Wells, therefore also known as Hay-Wells syndrome. The characteristic feature of this syndrome is "ankyloblepharon...
متن کاملTwo sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome?
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...
متن کاملMutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, which is characterized by cleft palate and severe defects of the skin, is an autosomal dominant disorder caused by mutations in the gene encoding transcription factor p63. Here, we report the generation of a knock-in mouse model for AEC syndrome (p63(+/L514F) ) that recapitulates the human disorder. The AEC mutation exerts a se...
متن کاملSyndrome in Question*
Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in additi...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2009
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.32826