Buket Uysal ALADAĞ, Fatma Hilal YILMAZ, Nadir KOÇAK, Ali ANNAGÜR

Hidrosefali Ile Ilişkili Ektrodakli, Ektodermal Displazi, Yarık Dudak Ve Damak Sendromulu Bir Vakanın Değerlendirmesi

Ektrodaktili, ektodermal displazi, yarık dudak ve damak sendromu (EEC); ektrodaktili, ektodermal displazi ve orofasiyal yarık ile karakterize gelişimsel bir genetik hastalıktır. Literatürde bu konu ile ilgili çok fazla vaka rapor edilmemektedir. Sendromun esas komponentleri; el ve ayaklarda ektrodaktili ve sindaktili, normal veya yarık damaklı yarık dudak ve deri (hipopigmente ve kuru cilt, hiperkeratinoz, deri atrofisi), kıl (seyrek saç ve kaş), diş (küçük, yok veya displastik diş), tırnak( tırnak distrofisi) ve dış salgı bezleri ( terin azalması veya yokluğu, yağlı ve tükürük bezleri ) dahil olduğu anormal ektodermal yapılardır. Tedavisi; ortopedi, plastik ve diş cerrahisi, oftalmolojist, dermatolog ve konuşma terapisti ve psikologların birlikte çalışacağı multidisipliner bir yaklaşıma ihtiyaç duymaktadır. Biz literatürde ilk kez rastlanan hidrosefalili EEC sendromlu bir vakayı sunduk.

Anahtar Kelimeler:

Ektrodaktili, ektodermal displazi, yarım damak ve dudak, hidrosefali

A Case of Ectrodactyly, Ectodermal Dysplasia, Cleft Lip and Palate Syndrome Associated with Hydrocephaly

Ectrodactyly, ectodermal dysplasia, cleft lip, and palate syndrome (EEC) is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia and orofacial clefts (cleft lip/ palate). A few cases have been reported in literature. The cardinal components of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate, and abnormalities ectodermal structures including skin (i.e. hypopigmented and dry skin, hyperkeratosis, skin atrophy), hair (sparse hair and eye brows), teeth (small, absent or dysplastic teeth), nails (nail dystrophy) and exocrine glands (reduction/ absence of sweat, sebaceous and salivary glands). A multidisciplinary approach for treatment is needed which is co-ordinated by orthopedic, plastic, dental surgeons, ophthalmologist, dermatologists and speech therapists, psychologists. We presented EEC syndrome case with hydrocephaly by the literature.

Keywords:

Ectrodactyly, ectodermal dysplasia, cleft palate and lip, hydrocephaly,

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Scotet V, Barton DE, Watson JB, Audrezet MP, McDevitt T, et al. Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Britany (France) and Ireland. Hum Mutat. 2003;22:105

Rüdiger RA, Haase W, Passarge E. Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. Am J Dis Child 1970;120:160–163.

Rodini ES, Richieri-Costa A. EEC syndrome: Report on 20 new patients, clinical and genetic considerations. Am J Med Genet 1990; 37:42– Ramirez D, Lammer EJ. Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations. Cleft Palate Craniofac J 2004; 41:501-6.

A A McNab, M J Potts, R A Welham, The EEC syndrome and its ocular manifestations, Br J Ophthalmol. 1989; 73(4): 261–264

Ben-Amitai D, Rachmel A, Levy Y, Sivan Y, Nitzan M, Steinherz R. Hypodipsic hypernatremia and hypertriglyceridemia associated with cleft lip and cleft palate: a new hypothalamic dysfunction syndrome? Am J Med Genet 1990; 36:275-278.

Roitman A, Laron Z. Hypothalamopituitary hormone insufficiency associated with cleftlipand palate. Arch Dis Child 1978; 53:6376

Park CK, Oh YH. Expression of p63 in reactive hyperplasias and malignant lymphomas. J Korean Med Sci. 2005; 20(5):752-8.

Livia T. Rios, Edward Araujo, Jşnior, Ana C. R. Caetano, Luciano M. Nardozza, Antonio F. Moron, Marília G. Martins, Prenatal Diagnosis of EEC Syndrome with “Lobster Claw” Anomaly by 3D Ultrasound, J Clin Imaging Sci. 2012; 2:

Nihal Hatipoğlu, Selim Kurtoğlu, Derya Büyükayhan, Mustafa Akçakuş, Hypothalamo−Pituitary Insufficiency Associated with Ectrodactyly−Ectodermal Dysplasia−Clefting Syndrome, J Clin Res Pediatr Endocrinol. 2009; 1(5): 252–255.

Yazışma Adresi / Address for Correspondence: Dr. Ali Annagür Selçuk Üniversitesi Tıp Fakültesi, Yenidoğan Servisi Selçuklu /Konya, TURKEY e-mail: aliannagur@yahoo.com geliş tarihi/received :24.09.2012 kabul tarihi/accepted:07.12.2012