Abstract
CLINICAL DETAILS A newborn term was born to a consanguineously married couple, with characteristics (Ankyloblepharon filiforme adenatum) of Hay-Wells syndrome. The baby also had alopecia, with no eyebrows and eyelashes, fused upper and lower eyelids, microphthalmia (left), microcornia (left), hypertelorism, depressed nasal bridge, broad flat nose with anteverted nares, cleft upper lip(right side), right preauricular tag, low set crumpled ear on left side, dry peeling skin and dysplastic nails. DISCUSSION Hay-Wells syndrome, also known as Ankyloblephronectodermal dysplasia-clefting (AEC) syndrome (OMOM 106260), is a rare autosomal dominant disorder characterized by broad nose, cleft lip lateral, coarse/ thick hair, decreased sweating, lid adhesions/ ankyloblepharon, dysplastic/thick/grooved toe nails, sparse/absent scalp hair (genralised), cleft palate enamel anomaly, tooth shape anomaly, anodontia/ oligodontia, absent/decreased lashes, micrognathia/ retrognathia, abnormal dental position, absent/ decreased eyebrows, palmoplanter hyperkeratosis and increased skin pigmentation.
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