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Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and corneal opacity in a patient with Miller syndrome
Joint Authors
Shawqi, Rabah M.
Amr, Nirmin
al-Abd, Hibah Salah
Raghib, Shayma Jad
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 15, Issue 2 (30 Apr. 2014), pp.199-202, 4 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2014-04-30
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Topics
Abstract EN
Background : Miller syndrome is one of the acrofacial dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs.
Case report : A 26 month old male child, the product of healthy no consanguineous parents has many typical features of Miller syndrome.
He has cleft lip and palate, malar hypoplasia, left crumpled cup shaped ear, and prominent nose together with the absence of the fifth ray in feet (postaxial) and fixation of interphalangeal joints of both thumbs (preaxial).
However the limb affection is bilateral and symmetrical against what is usually reported (bilateral with more affection of one side) and the micrognathia is very mild.
Our patient has also bilateral corneal opacities as well as underdeveloped external genitals.
Conclusion : There is phenotypic variability in Miller syndrome, and our patient may represent a new distinct subgroup in postaxial acrofacial dysostosis.
American Psychological Association (APA)
Shawqi, Rabah M.& Amr, Nirmin& al-Abd, Hibah Salah& Raghib, Shayma Jad. 2014. Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and corneal opacity in a patient with Miller syndrome. The Egyptian Journal of Medical Human Genetics،Vol. 15, no. 2, pp.199-202.
https://search.emarefa.net/detail/BIM-374352
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and corneal opacity in a patient with Miller syndrome. The Egyptian Journal of Medical Human Genetics Vol. 15, no. 2 (Apr. 2014), pp.199-202.
https://search.emarefa.net/detail/BIM-374352
American Medical Association (AMA)
Shawqi, Rabah M.& Amr, Nirmin& al-Abd, Hibah Salah& Raghib, Shayma Jad. Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and corneal opacity in a patient with Miller syndrome. The Egyptian Journal of Medical Human Genetics. 2014. Vol. 15, no. 2, pp.199-202.
https://search.emarefa.net/detail/BIM-374352
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 202
Record ID
BIM-374352