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- W2116540722 abstract "We would like to present a case of the rare genetic skin disorder catalogued as AEC syndrome. This rare disorder was described in 1976 by Hay and Wells in seven individuals from four families, and it entails a complex polymalformative syndrome with an autosomal-dominant inheritance pattern and variable penetration. Descriptive explanation and facial and intraoral images of this rare disorder constituted the study design. The neonatal report outlines dysplastic phenotype, micrognathia, hypoplasia of the hard and soft palate, cleft palate, small nose, mammary hypoplasia with ectopic mammary nodules, hypoplastic external genitalia with clitoral hypertrophy, hypoplasia of the nails, a tendency towards dorsiflexion of the big toe on both feet, ankyloblepharon filiforme, low positioning of the auricles and faulty development of the left auricle, scaly exanthema with eritrodermatitis and hyperkeratosis, good lung ventilation, normal heart rhythm and normal neurological examination. Although only a few cases published are available, clinical variability is one of the hallmarks of AEC syndrome. The majority of authors consider ankyloblepharon, ectodermal dysplasia and orofacial clefting as cardinal signs. They are all are present in the case reported." @default.
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- W2116540722 date "2006-09-01" @default.
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- W2116540722 title "Hay–Wells syndrome (AEC): a case report" @default.
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- W2116540722 doi "https://doi.org/10.1111/j.1601-0825.2006.01227.x" @default.
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