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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2014-07-01
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| Series: | Egyptian Journal of Medical Human Genetics |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1110863014000287 |
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doaj-0864d7f20bd748f9a113b331b8b1c3b32020-11-25T02:32:51ZengSpringerOpenEgyptian Journal of Medical Human Genetics1110-86302014-07-0115330531010.1016/j.ejmhg.2014.02.004Oral-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 typeRabah M. Shawky0Heba Salah Abd Elkhalek1Marwa M. Al-Fahham2Shaimaa Abdelsattar Mohammad3Shaimaa Gad4Pediatric Department, Genetics Unit, Ain Shams University, EgyptPediatric Department, Genetics Unit, Ain Shams University, EgyptPediatric Department, Cardiology Unit, Ain-Shams University, EgyptRadio Diagnosis Department, Ain-Shams University, EgyptPediatric Department, Genetics Unit, Ain Shams University, EgyptWe 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.http://www.sciencedirect.com/science/article/pii/S1110863014000287Oral-facial-digital syndromePolydactylyY shaped metacarpal boneSyndactylyCommon atrioventricular canalHirschsprung diseaseSacral dysgenesis |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Rabah M. Shawky Heba Salah Abd Elkhalek Marwa M. Al-Fahham Shaimaa Abdelsattar Mohammad Shaimaa Gad |
| spellingShingle |
Rabah M. Shawky Heba Salah Abd Elkhalek Marwa M. Al-Fahham Shaimaa Abdelsattar Mohammad Shaimaa Gad 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 Egyptian Journal of Medical Human Genetics Oral-facial-digital syndrome Polydactyly Y shaped metacarpal bone Syndactyly Common atrioventricular canal Hirschsprung disease Sacral dysgenesis |
| author_facet |
Rabah M. Shawky Heba Salah Abd Elkhalek Marwa M. Al-Fahham Shaimaa Abdelsattar Mohammad Shaimaa Gad |
| author_sort |
Rabah M. Shawky |
| title |
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 |
| title_short |
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 |
| title_full |
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 |
| title_fullStr |
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 |
| title_full_unstemmed |
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 |
| title_sort |
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 |
| publisher |
SpringerOpen |
| series |
Egyptian Journal of Medical Human Genetics |
| issn |
1110-8630 |
| publishDate |
2014-07-01 |
| description |
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. |
| topic |
Oral-facial-digital syndrome Polydactyly Y shaped metacarpal bone Syndactyly Common atrioventricular canal Hirschsprung disease Sacral dysgenesis |
| url |
http://www.sciencedirect.com/science/article/pii/S1110863014000287 |
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