Results 31 to 40 of about 7,423 (270)

Surgical management of ectrodactyly-associated foot deformity in a child: a case report [PDF]

Journal of Medical Case Reports
Background Ectrodactyly, also called split hand/foot malformation, is a rare birth defect where some middle fingers or toes are missing or not formed properly, making the hand or foot look split.
Sohaib Raza, Shahrukh Rehman, Zernain Toor, Risha Naeem, Soban Ahmed Qureshi, Muzzamil Ahmed, Tehreem Zubair, Samim Noori, Sardar Noman Qayyum   +8 more
doaj   +2 more sources

EEC SYNDROME. CASE REPORT

, 2014
Aim. Case report. EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).
LUGLIÈ, Pietrina Francesca, LUMBAU, Aurea Maria Immacolata, G. Spano   +2 more
core   +2 more sources

EEC syndrome

Indian Journal of Ophthalmology, 2007
Kumar Harish, Kugar Thungappa, Rao Raghavendra, Kodkany Shilpa   +3 more
doaj   +3 more sources

A newborn with overlapping features of AEC and EEC syndromes

American Journal of Medical Genetics Part A, 2011
Item does not contain fulltextEctrodactyly, ectodermal dysplasia, clefting (EEC) syndrome is the prototype of several p63 conditions, which include ankyloblepharon, ectodermal dysplasia, clefting (AEC) syndrome, limb-mammary syndrome (LMS), Rapp-Hodgkin ...
Korkmaz, A., Bodugroglu, K., Buyukcam, A., Celik, T.H., ÜTİNE, GÜLEN EDA, Yurdakok, M., Helger G. Yntema, Utine, G.E., Koray Bodugroglu, Bodugroglu, Koray, Ersoy-Evans, Sibel, Gulen Eda Utine, Simsek-Kiper, Pelin Ozlem, Ersoy-Evans, S., Simsek-Kiper, P.O., Yntema, Helger G., Ayse Buyukcam, Pelin Ozlem Simsek-Kiper, Celik, Tolga Hasan, Yurdakok, MURAT, Sibel Ersoy-Evans, Buyukcam, Ayse, Murat Yurdakok, Yntema, H.G., Tolga Hasan Celik, Ayse Korkmaz, Korkmaz, Ayse   +26 more
core   +4 more sources

The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene

The Turkish Journal of Pediatrics, 2010
The p63 gene is a transcription factor and a member of the p53 family. Heterozygote mutation of the p63 gene is suggested in a number of human syndromes including limb development and/or ectodermal dysplasia.
Hacer Ergin, C Nur Semerci, Y Tuğrul Karakuş, Hans Scheffer, Seniz Ergin, Uğur Koltuksuz, Rowdy Meijer, N Lale Satiroğlu-Tufan   +7 more
doaj   +2 more sources

Case report: Prenatal diagnosis of Ectrodactyly–Ectodermal dysplasia–Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney

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, He Biwei, Su Min, Wang Yanlin, Zhao Xinrong, Gao Li, Hua Renyi, Sun Jinling, Wang Shan, Wu Yi, Cheng Weiwei   +10 more
doaj   +1 more source

Four cases with ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome: Clinical evaluation and management and literature review

Trends in Pediatrics, 2023
A rare syndrome is ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome, which may present with lobster claw deformity. The main clinical characteristics indicate involvement of ectodermal and mesodermal tissues, including mesoaxial and ...
Gül Trabzon, Ülkü Gül Şiraz, Zeynep Uzan Tatlı, Merve Nur Hepokur, Leyla Akın, Nihal Hatipoğlu, Tamer Güneş   +6 more
doaj   +1 more source

A child with EEC syndrome — a 10 years follow-up

Open Medicine, 2012
Machorowska-Pieniążek Agnieszka, Muc-Wierzgoń Małgorzata, Baron Stefan, Kokot Teresa, Fatyga Edyta   +4 more
doaj   +2 more sources

A Rare Case of Ectrodactyly Ectodermal Dysplasia and Cleft Lip Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2022
A 23-year-old female patient visited the Oral Medicine and Radiology Department with the complaint of irregularly placed upper and lower front teeth since childhood.
Kshma Rao, Roopashri R Kashyap, Raghavendra Kini, Prasanna Kumar Rao, Gowri P Bhandarkar, Devika Shetty   +5 more
doaj   +1 more source

Dilemmas in counselling: the EEC syndrome. [PDF]

Journal of Medical Genetics, 1990
A family with the EEC syndrome is reported. Two sibs have the classical form of the condition with ectrodactyly, ectodermal dysplasia, and clefting. Their mother, however, has only minimal evidence, with preaxial polydactyly of the right hand and duplication of the terminal phalanx of the second toe of the left foot with 3/4 syndactyly.
K, Tse, I K, Temple, M, Baraitser
openaire   +2 more sources