Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome
AUTOR(ES)
Dallapiccola, Bruno
RESUMO
A sporadic patient with OFC syndrome is described. Distinguishing features were a long face with narrow nose, high arched palate, prominent and dysmorphic ears, long neck, sloping shoulders and clavicles, winged, low, and laterally set scapulae, tetralogy of Fallot, and deafness secondary to cochlear malformation. Some features present in the original family, including lateral cervical fistulae, have suggested that OFC syndrome could be a variant of BOR syndrome. The absence of preauricular tags, lacrimal duct stenosis, and renal malformations, and the presence of distinct facial and radiographic findings and markedly downward sloping shoulders in the present patient support OFC syndrome being a unique, clinically recognisable entity.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1051709Documentos Relacionados
- Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review
- Biochemical and Functional Characterization of Six SIX1 Branchio-oto-renal Syndrome Mutations*
- SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes
- Oto-onycho-peroneal syndrome: confirmation of a syndrome.
- Complete atrioventricular block during renal transplantation in a patient with Alport's syndrome: case report