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
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
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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
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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
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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
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Roelfsema NM, Cobben JM. The EEC syndrome: a literature study. Clinical Dysmorphology, 5: 115-127, 1996
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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
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Koul M, Dwivedi R, Upadhyay V. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome). Journal of Oral Biology & Craniofacial Research, 4(2):135-139, 2014
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Agrawal A, Agrawal R, Singh R, et al. Lobster claw deformity. Indian Journal of Dental Research, 25(2):243-247, 2014
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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