E

 

EEC3 sendromu (ectodermal dysplasia-ectrodactylia-clefting3)

Kalıtsal - AD/Spontan (TP63 mutasyonu)

Tüm kıllar, kaşlar ve kirpikler seyrek

Saçlar açık gümüş rengi

Lakrimal kanal atrezisi

Konjunktivit

Blefarit

Kornea sikatrisleri

İrisler mavi

Fotofobi

İşitme sorunları

Parotis kanalı atrezisi

Ağız kuruluğu

Candida stomatiti

Maksilla hipoplazisi (mikrognati)

Yarık dudak

Yarık damak

Hipodonti (maksiller 1. süt azısı)

Oligodonti

Mine hipoplazisi

Yaygın çürükler

Sindaktili

Ektrodaktili (istakoz kıskacı parmaklar)

Deride nevuslar ve hipopigmentasyon alanları

Hiperkeratoz

Terleme azlığı

Ürogenital  anomaliler

Meme uçları hipoplazisi

Büyüme hormonu eksikliği

Diabetes insipidus

Patterson-Stevenson-Fontaine sendromu (benzer bulgular içeren çok ender bir sendrom)

 

  • Rodini ESO, Richieri-Costa A. EEC syndrome: report on 20 new patients, clinical and genetic considerations. American Journal of Medical Genetics, 37: 42-53, 1990

  • Buss PW, Hughes HE, Clarke A. Twenty-four cases of the EEC syndrome: clinical presentation and management. Journal of Medical Genetics, 32:716–723, 1995

  • Ogutcen-Toller M, Gulen O, Okten G, Elbistan M. Non-Hodgkin's lymphoma in a patient with ectrodactyly ectodermal dysplasia-clefting syndrome (Letter). Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology & Endodontics, 90: 124-125, 2000

  • van Bokhoven H, Hamel BC, Bamshad M, et al. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. American Journal of Human Genetics, 2001;69:481–492, 2001

  • Barrow LL, van Bokhoven H, Daack-Hirsch S, et al. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. Journal of Human Genetics, 39:559–566, 2002

  • Brunner HG, Hamel BC, Van Bokhoven H. The p63 gene in EEC and other syndromes. Journal of Medical Genetics, 39(6):377-381, 2002

  • Rinne T, Brunner HG, van Bokhoven H. p63-associated disorders. Cell Cycle, 6:262–268, 2007

  • Felipe AF, Abazari A, Hammersmith KM, et al. Corneal changes in ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome: case series and literature review. International Ophthalmology, 32(5):475-480, 2012

  • Okamura E, Suda N, Baba Y, et al. Dental and maxillofacial characteristics of six Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome. Cleft Palate-Craniofacial Journal, 50(2):192-200, 2013

  • Vernersson Lindahl E, Garcia EL, Mills AA. An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome. American Journal of Medical Genetics A, 161A(8):1961-1971, 2013

  • Koul M, Dwivedi R, Upadhyay V. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome). Journal of Oral Biology & Craniofacial Research, 4(2):135-139, 2014

  • Agrawal A, Agrawal R, Singh R, et al. Lobster claw deformity. Indian Journal of Dental Research, 25(2):243-247, 2014

  • Hyder Z, Beale V, O'Connor R, Clayton-Smith J. Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome. Clinical Dysmorphology, 26: 78-82, 2017