Branchio-ocuto-facial syndrome with the atresia of external ear
Yükleniyor...
Dosyalar
Tarih
2005
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Elsevier Ireland Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
We report an 8-year-old child with branchio-oculo-facial syndrome. He showed atresia of external ear, preauricular pit, maxillar and mandibular hypoplasia, mild ptosis on the left side, Lacrimal duct obstruction, unilateral branchial cyst, hypertrichosis of the neck, left foot showed mild syndactily of fourth and fifth toes and dental abnormalities. His mother had pseudocleft of the lip which Led to the diagnosis. The importance of serial observations in patients with rare genetic disorders is emphasized. (c) 2005 Elsevier Iretand Ltd. All rights reserved.
Açıklama
WOS: 000233098700020
PubMed: 15936829
PubMed: 15936829
Anahtar Kelimeler
branchio-oculo-facial syndrome, external ear atresia, preauricular pit, maxillar hypoplasia, mandibular hypoplasia
Kaynak
International Journal Of Pediatric Otorhinolaryngology
WoS Q Değeri
Q3
Scopus Q Değeri
Cilt
69
Sayı
11
