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Multiple Dental and Skeletal Abnormalities in an Individual with Filippi Syndrome
Joint Authors
Saha, Rooposhi
Malik, Pooja
Sandhu, Meera
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-10-08
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation.
We report on a child with Filippi syndrome who shows syndactyly of fingers, severe postnatal growth retardation, postnatal microcephaly, and moderate to severe mental retardation.
In addition, there is a mildly dysmorphic face along with ocular and a number of dental abnormalities.
Radiologically, hands demonstrate bony syndactyly, without any hypoplasia of bones.
This phenotype can easily be classified in the group of craniodigital syndromes, but it is difficult to make a more clearly defined diagnosis, based on other minor anomalies, because of the presence of overlapping features.
On the basis of various pathognomic features, we conclude that our patient could be an additional case of Filippi syndrome.
Moreover, newly recognised features in this patient may be due to variability in phenotypic expression.
American Psychological Association (APA)
Sandhu, Meera& Malik, Pooja& Saha, Rooposhi. 2013. Multiple Dental and Skeletal Abnormalities in an Individual with Filippi Syndrome. Case Reports in Dentistry،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-502799
Modern Language Association (MLA)
Sandhu, Meera…[et al.]. Multiple Dental and Skeletal Abnormalities in an Individual with Filippi Syndrome. Case Reports in Dentistry No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-502799
American Medical Association (AMA)
Sandhu, Meera& Malik, Pooja& Saha, Rooposhi. Multiple Dental and Skeletal Abnormalities in an Individual with Filippi Syndrome. Case Reports in Dentistry. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-502799
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-502799