E

 

EEC1 sendromu (ectodermal dysplasia-ectrodactylia-clefting1)

Kalıtsal - AD

Kirpikler ve kaşlar seyrek

Gözde irisler mavi

Fotofobi

Göz kapak yapışıklıkları ve inflamasyonu

Gözyaşı kanalı anomalileri

Dakriyosistit

Kulak anomalileri

İşitme sorunları

Burun sırtı düz

Maksilla hipoplazisi (mikrognati)

Yarık dudak

Yarık damak

Parotis duktusu agenezi

Ağız kuruluğu

Hipodonti

Mikrodonti

Yaygın çürükler

Meme uçlarında hipoplazi

Mikropenis

İnmemiş testis

Vaginada transvers septum varlığı

Renal agenesis/displazi

Hidronefroz

Megaüreter

Vezikoüretral reflü

Mesane divertikülü

Parmak anomalileri

Tırnaklar distrofik

Vücut kılları açık renkli

Pubis ve aksilla kılları seyrek

Zeka geriliği

Büyüme hormone eksikliği

Hipogonadotropik hipogonadizm

Diabetes insipidus

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  • 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

  • Scherer SW, Poorkaj P, Massa H, et al. Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. Human Molecular Genetics, 3: 1345-1354, 1994

  • 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

  • Moerman P, Fryns J-P. Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. American Journal of Medical Genetics, 63: 479-481, 1996

  • Roelfsema NM, Cobben JM. The EEC syndrome: a literature study. Clinical Dysmorphology, 5: 115-127, 1996

  • 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

  • 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

 

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