Midline defects of the orofaciodigital syndrome type VI (Váradi syndrome).
The orofaciodigital syndromes (OFDS) represent a spectrum of anomalies of the palate, cranium, hands, and feet. Váradi syndrome, designated OFDS type VI, is a rare disorder that is additionally characterized by cerebellar anomalies. The following report is of a patient with OFDS VI and characteristic multiple midline defects: median cleft lip and palate, lingual cleft with nodules, and midline brain malformation. In addition, this case is uniquely associated with the presence of midline (metopic and sagittal) craniosynostoses as well. It is unusual that deformities which result from premature fusion of cranial vault sutures would appear synchronously in a syndrome based on the concept of failure of fusion or coalescence of facial growth centers. The midline represents an independent developmental field, whereby CNS defects and midline anomalies can present concurrently.
Wey
P D
PD
Division of Plastic Surgery, UMDNJ-Robert Wood Johnson Medical School, New Brunswick.
Neidich
J A
JA
Hoffman
L A
LA
LaTrenta
G S
GS
D002531:Cerebellum / Q000002:abnormalities; D002971:Cleft Lip / Q000473:pathology / Q000601:surgery; D002972:Cleft Palate / Q000473:pathology / Q000601:surgery; D003398:Craniosynostoses / Q000473:pathology / Q000601:surgery; D005260:Female; D006222:Hamartoma / Q000601:surgery; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D009958:Orofaciodigital Syndromes / Q000473:pathology* / Q000601:surgery; D017689:Polydactyly / Q000473:pathology / Q000601:surgery; D014060:Tongue Diseases / Q000151:congenital / Q000601:surgery