PT  - JOURNAL ARTICLE
AU  - Bruno Dallapiccola
AU  - Rita Mingarelli
TI  - Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome
AID  - 10.1136/jmg.32.10.816
DP  - 1995 Oct 01
TA  - Journal of Medical Genetics
PG  - 816--818
VI  - 32
IP  - 10
4099  - http://jmg.bmj.com/content/32/10/816.short
4100  - http://jmg.bmj.com/content/32/10/816.full
SO  - J Med Genet1995 Oct 01; 32
AB  - 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.