Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey.
نویسندگان
چکیده
Two Turkish sibs, products of a second cousin marriage, with tetramelic syndactyly, ectodermal dysplasia, cleft lip and palate, renal anomalies, and mental retardation are reported. Similarities between these two brothers and previously reported cases and their mode of transmission are discussed.
منابع مشابه
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of “Incomplete syndrome”
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature n...
متن کاملAnkyloblepharon-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 کاملEctodermal dysplasia, cleft lip/palate, and severe cutaneous and osseous syndactyly in a mentally retarded girl: a new multiple malformation syndrome.
A 13-year-old mentally retarded girl with severe cutaneous and osseous syndactyly of the hands and feet, cleft lip/palate, and ectodermal dysplasia is presented. We conclude that the pattern of malformations described represents a new multiple malformation syndrome. A comparison with Zlotogora-Ogür syndrome is presented.
متن کاملA FAMILY FROM TURKEY WITH HAY WELLS SYNDROME RESULTING FROM HETEROZYGOUS MUTATION OF P63 GENE Türkiye'deki bir ailede heterozigot p63 mutasyonunun neden olduğu Hay Wells sendromu
INTRODUCTION Hay Wells syndome, also known as ankyloblepharon–ectodermal dysplasia–clefting (AEC) syndrome, is one of the ectodermal dysplasia syndromes. It is an autosomal dominant disorder characterized by findings of ectodermal dyplasia including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip-palate (1). It was first described by Hay and Wells in 7 in...
متن کاملسندرم Ectrodactyly– ectodermal dysplasia clefting: گزارش مورد به همراه علائم دهانی
Objectives: Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) is a rare syndrome with features of ectrodactyly, ectodermal dysplasia and cleft lip/palate. This study presents an Iranian case with classic features and oral complications. Case: We report a 20-year old female with all manifestations of this syndrome. The simultaneous presence of these three malformations is extremely r...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 25 1 شماره
صفحات -
تاریخ انتشار 1988