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

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

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 s...

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Bibliographic Details
Main Authors: Rabah M. Shawky, Heba Salah Abd Elkhalek, Marwa M. Al-Fahham, Shaimaa Abdelsattar Mohammad, Shaimaa Gad
Format: Article
Language:English
Published: SpringerOpen 2014-07-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Oral-facial-digital syndrome
Polydactyly
Y shaped metacarpal bone
Syndactyly
Common atrioventricular canal
Hirschsprung disease
Sacral dysgenesis
Online Access:http://www.sciencedirect.com/science/article/pii/S1110863014000287

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