Results 21 to 30 of about 7,423 (270)

Cleft lip and palate as predictors of EEC syndrome: a clinical case

Лечащий Врач, 2021
Cleft lip and palate is one of the most common congenital pathologies of the face and ranks 3rd in the structure of all congenital malformations. An isolated form of this pathology occurs in 7,6-41,4% of cases; as part of symptomatic complexes of a cleft
A. A. Mamedov, S. A. Parshikova, Yu. O. Volkov, L. A. Mazurina, G. Ma, H. Guo, N. V. Gorlova   +6 more
doaj   +2 more sources

EEC syndrome: A rare case management

Journal of International Clinical Dental Research Organization, 2022
Ectrodactyly–ectodermal dysplasia–cleft lip/palate (EEC) syndrome is a rare congenital anomaly. Infants affected with this syndrome experience feeding difficulties due to the presence of orofacial clefts, which in turn impedes nutrition and affects ...
Payel Agarwala, Krittika Samaddar, Chitradeep Chakraborty, Sudipta Kar, Shabnam Zahir   +4 more
doaj   +2 more sources

Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype‐phenotype correlation analyses of TP63‐related disorders

Molecular Genetics & Genomic Medicine, 2019
Background Ectrodactyly‐Ectodermal dysplasia‐Cleft lip/palate (EEC) syndrome and Ankyloblepharon‐Ectodermal defects‐Cleft lip/palate (AEC) syndrome belong to p63 syndromes, a group of rare disorders exhibiting a wide variety of clinical manifestations ...
Jinglei Zheng, Haochen Liu, Yuan Zhan, Yang Liu, Sing‐Wai Wong, Tao Cai, Hailan Feng, Dong Han   +7 more
doaj   +2 more sources

A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome

Genetics and Molecular Biology, 2015
Ectrodactyly – ectodermal dysplasia and cleft lip/palate (EEC) syndrome (OMIM 604292) is a rare disorder determined by mutations in the TP63 gene. Most cases of EEC syndrome are associated to mutations in the DNA binding domain (DBD) region of the p63 ...
Leandro Ucela Alves, Eliete Pardono, Paulo A. Otto, Regina Célia Mingroni Netto   +3 more
doaj   +2 more sources

Dental management of a child with EEC syndrome

International Journal of Paediatric Dentistry, 1992
The EEC syndrome is a condition characterized by ectrodactyly, ectodermal dysplasia and clefting of the lip and/or palate. Here we report a case of a boy with the EEC syndrome.
I, Tanboğa, S, Pinçe, L, Düzdar
core   +6 more sources

The EEC syndrome: A literature study

Clinical Dysmorphology, 1996
Analysis of 230 published cases of the EEC syndrome revealed that, besides the cardinal symptoms (ectrodactyly, ectodermal dysplasia and clefting), lacrimal tract abnormalities and urogenital abnormalities are part of this syndrome.
Roelfsema, NM, Cobben, JM
core   +4 more sources

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

Cell, 1999
EEC syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and facial clefts. We have mapped the genetic defect in several EEC syndrome families to a region of chromosome 3q27 previously implicated in the EEC-like
Pascal H G Duijf, Ben C J Hamel, Michael Bamshad   +2 more
exaly   +2 more sources

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

Contemporary Clinical Dentistry, 2012
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.
P K Shivaprakash, Hrishikesh V Joshi, Hina Noorani, Venugopal Reddy   +3 more
doaj   +2 more sources

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
doaj   +2 more sources

Lobster-claw hand: a manifestation of EEC syndrome

Indian Journal of Dermatology, Venereology and Leprology, 2006
The combination of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate (EEC syndrome) is a rare type of congenital anomaly. It usually occurs as an autosomal-dominant trait or less commonly in a sporadic form.
M. J. Cyriac, E. Lashpa
core   +4 more sources