Article

Branchio-oculo-facial syndrome with the atresia of external ear.

Department of Otorhinolaryngology, Duzce Medical Faculty, 81010 Duzce, Turkey.
International Journal of Pediatric Otorhinolaryngology (impact factor: 1.17). 12/2005; 69(11):1575-8. DOI:10.1016/j.ijporl.2005.04.013 pp.1575-8
Source: PubMed

ABSTRACT 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.

0 0
 · 
0 Bookmarks
 · 
20 Views
Data provided are for informational purposes only. Although carefully collected, accuracy cannot be guaranteed. The impact factor represents a rough estimation of the journal's impact factor and does not reflect the actual current impact factor. Publisher conditions are provided by RoMEO. Differing provisions from the publisher's actual policy or licence agreement may be applicable.

Keywords

branchio-oculo-facial syndrome
 
dental abnormalities
 
fifth toes
 
fourth
 
lacrimal duct obstruction
 
left side
 
maxillar
 
mild ptosis
 
mild syndactily
 
rare genetic disorders
 
serial observations
 
unilateral branchial cyst