Results 31 to 40 of about 1,915 (178)
Split Hand/Foot Malformation: Case Series A Case Report and Review of Literature [PDF]
Journal of Clinical and Diagnostic Research, 2019 Split Hand/Foot Malformation (SHFM) is a rare genetic disorder. It is also known as ectrodactyly. In this disorder, the central rays of the hand and feet are affected leading to various malformations of the hands and feet.
Divya Chauhan, Alpana Singh
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Case Reports in Genetics, 2013 Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges.
Jonathan Lévy +5 more
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Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome)
Contemporary Clinical Dentistry, 2012 The ectodermal dysplasias (EDs) are a large and complex group of diseases. More than 170 different clinical conditions have been recognized and defined as ectodermal dysplasias.
Mohita Marwaha, Kanwar Deep Singh Nanda
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Hypohidrotic Ectodermal Dysplasia with total anodontia: a case report [PDF]
, 2011 Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack ...
Sathyajith Naik, N. +3 more
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Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome
Plastic and Reconstructive Surgery, Global Open, 2018 Background:. Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia.
Adi Rachmiel, DMD, PhD +4 more
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Frontiers in Genetics, 2022 Ectrodactyly–ectodermal dysplasia–cleft (EEC) syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefting.
He Biwei +10 more
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A dominant mutation etiologic for human tricho-dento-osseous syndrome impairs the ability of DLX3 to downregulate ΔNp63α. [PDF]
, 2011 The homeodomain transcription factors play crucial roles in many developmental processes ranging from organization of the body plan to differentiation of individual tissues.
Calabrò V. +7 more
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Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature
Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi +13 more
wiley +1 more source
Ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome without ectrodactyly
Dermatology Online Journal, 2006 The ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome (EEC syndrome) is an autosomal dominant dysplasia syndrome, whose pleiotropic effects involve mainly ectodermal structures. The most common clinical manifestations are ectodermal dysplasia, ectrodactyly , cleft lip/palate, and tear-duct anomalies.
Sankhyan, Naveen +2 more
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Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant
Indian Journal of Dermatology, 2016 Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300FNx01 in exon 10 of PORCN gene with mosaicism, earlier ...
Swathi Sunil Rao +3 more
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