Oral-facial-digital syndrome with mesoaxial polysyndactyly, common A V canal, hirschsprung disease and sacral dysgenesis : probably a transitional type between II, VI, variant of type VI or a new type

Abstract EN

We report a 4 month old male infant, the first in order of birth of healthy first cousin consanguineous parents who has many typical features of oral-facial-digital syndrome type VI (OFDS VI) including hypertelorism, bilateral convergent squint, depressed nasal bridge, and wide upturned nares, low set posteriorly rotated ears, long philtrum, gum hyperplasia with notches of the alveolar borders, high arched palate, and hyperplastic oral frenula.

He has mesoaxial and postaxial, polysyndactyly which is the specific feature of OFDS VI, however the cerebellum is normal on MRI brain.

He has also some rare congenital anomalies including common atrioventricular canal, hirschsprung disease, and sacral dysgenesis.

This patient may have a transitional type between II and VI, a variant of type VI or a new type.