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

Year 2013, Volume: 38 Issue: 3, 531 - 535, 01.09.2013

Buket Uysal Aladağ Fatma Hilal Yılmaz Nadir Koçak Ali Annagür

Abstract

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

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

Abstract

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.

Keywords

Ektrodaktili, ektodermal displazi, yarım damak ve dudak, hidrosefali

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