Results 1 to 10 of about 7,423 (270)

Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: Five new mutations in the DNA-binding domain of the TP63 gene and genotype–phenotype correlation

, 2009
EEC (ectrodactyly, ectodermal dysplasia, clefting; OMIM 604292) syndrome is an autosomal dominant developmental disorder. Characteristic clinical features comprise abnormalities in several ectodermal structures including skin, hair, teeth, nails and ...
McGrath, J. A., Mellerio, J. E., Coman, D., Clements, S. E., Techanukul, T., McGrath, J.A.   +5 more
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Hypothalamo-pituitary insufficiency associated with ectrodactyly-ectodermal dysplasia-clefting syndrome

, 2009
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is characterized by ectodermal dysplasia, ectrodactyly and facial clefting with multiple congenital anomalies such as urinary tract anomaly, lacrimal duct obstruction, and hearing loss.
Büyükayhan D., Hatipo?lu N., Akçakuş M., Kurto?lu S.   +3 more
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Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia microphthalmia, and genitourinary anomalies: nosology of goltz-gorlin syndrome versus eec syndrome

, 1992
We report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia.
E. S. O. Rodini, Rodini, ESO, Nardi, A., M. L. Guion‐Almeida, A. Richieri‐Costa, Richiericosta, A., Guionalmeida, M. L., A. Nardi   +7 more
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Twenty-four cases of the EEC syndrome: clinical presentation and management.

, 1995
Twenty-four cases of EEC syndrome were identified as part of a nationwide study. Ectodermal dysplasia, by study definition, was present in all cases and hair and teeth were universally affected.
P W Buss, H E Hughes, Clarke, Angus John, Buss, P. W., Hughes, H. E., A Clarke   +5 more
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PRUNE BELLY ANOMALY ON PRENATAL ULTRASOUND AS A PRESENTING FEATURE OF ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING SYNDROME (EEC)

, 2008
Prune Belly anomaly on prenatal ultrasound as a presenting feature of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC): We report on a fetus with prune belly anomaly presenting at 16 weeks gestation.
Vandenbroecke, C., Scheffer, H., Scheffer, H, Janssens, Sandra, Vandenbroecke, C, Janssens, S., Defoort, P., Mortier, G., Defoort, Paul, Mortier, Geert   +9 more
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EEC syndrome with a de novo mutation (c.953G>A) on exon 7 of p63 gene: A case report [PDF]

, 2012
PubMed ID: 23431748EEC syndrome is characterized by ectodermal dysplasia, ectrodactyly and cleft Hp and/or palate and associated anomalies such as lacrimal duct obstruction, urinary tract anomaly, and hearing loss.
Okur, Mesut, Ülgen, E., Şenses, Dursun Ali, Mundlos, Stefan, Eröz, Recep, İsmailler, Z.B., Özçelik, Derya   +6 more
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Síndrome de ectrodactilia, displasia ectodérmica y labio-paladar hendidos Syndrome of Ectrodactylism, ectodermic dysplasia and lip-cleft palate

Revista Cubana de Estomatología, 2010
El presente trabajo se propone reportar a un paciente masculino de 12 años de edad con presencia de la tríada completa del síndrome ectrodactilia, displasia ectodérmica y labio-paladar hendidos (EEC); señalar los hallazgos clínicos encontrados en las ...
Mario A. Salazar Fernández, Elías Romero de León, Pedro N. Menchaca Flores, Hilda H. H. Torre Martinez, Rogelio Sepúlveda Infante   +4 more
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Case Report - EEC syndrome sans clefting: Variable clinical presentations in a family

, 2007
Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC) is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity ...
Yogesh, Marfatia, Sejal, Thakkar
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Implant-Prosthetic Rehabilitation of a Patient With EEC Syndrome Using Additively Manufactured Custom-Made Subperiosteal Implants: A Case Report

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is a rare genetic disorder presenting significant challenges for dental rehabilitation due to severe maxillary atrophy and altered anatomy.
Spano G., Lechien J. R., Vaira L. A., Biglio A., De Riu G., Consorti G.   +5 more
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EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?

, 2007
Contains fulltext : 52212.pdf (Publisher’s version ) (Open Access)We report on two unrelated families with EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip/palate), each with an Arg227Gln TP63 gene mutation, where the ...
Onikul, E., Smith, G.H., Taylor, M., Scheffer, H., Holme, S.A., Graf, N., Moss, C., Gilmour, E., Bokhoven, J.H.L.M. van, Maclean, K., Ades, L.C.   +10 more
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