Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child-probable FFU syndrome
Joint Authors
Shawqi, Rabah M.
Abd al-Khaliq, Hibah Salah
Muhammad, Shayma Abd al-Sattar
Jad, Shayma
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 15, Issue 3 (31 Jul. 2014), pp.299-303, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2014-07-31
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Topics
Abstract AR
استعمل نظام تمييز الكلام بصورة واسعة بوساطة عدد من الباحثين باستخدام طرائق مختلفة لنحقيق تمييز سريع و دقيق.
إن تمييز إشارة الكلام تعد مشكلة تصنيف نوعية و هي تضم بصورة عامة جزئين أساسيين : استخلاص الميزات و التصنيف.
تضمن هذا العمل اقتراح ثلاثة طرق لاستخلاص الخصائص و هي تحويل المويجي المتقطع (DWT) بنوعية Db4 and Db1 و تحويل الموديل (SLT).
تم تطوير نظام يعتمد على استخدام الشبكات العصبية الاصطناعية مع طريقة ميلان الزمن الديناميكي لغرض التمييز.
ثلاثة و عشرون كلمة عربية بخمسة عشر أزمان مختلفة مسجلة في الأستوديو بوساطة متكلم واحد لتشكيل قاعدة بيانات أداء النظام المقترح تم عن طريق تمثيل قاعدة البيانات باستخدام حقيبة ال MATLAB.
بينت النتائج أن دقة التمييز هي (65%, 70%, 80%) باستخدام DWT (Db1, DWT Db4 and SLT) على التوالي.
Abstract EN
We report a fifteen month old Egyptian male child, the third in order of birth of healthy non consanguineous parents, who has normal mentality, normal upper limbs and left lower limb.
The right lower limb has short femur, and tibia with anterior bowing, and an overlying skin dimple.
The right foot has also oligosyndactyly (three toes), and the foot is in vulgus position.
There is limited abduction at the hip joint, full flexion and extension at the knee, limited dorsiflexion and plantar flexion at the ankle joint.
The X-ray of the lower limb and pelvis shows proximal focal femoral deficiency, absent right fibula with shortening of the right tibia and anterior bowing of its distal third.
The acetabulum is shallow.
He has a family history of congenital cyanotic heart disease.
Our patient represents most probably the first case of femur fibula ulna syndrome (FFU) in Egypt with unilateral right leg affection.
We suggest that the condition in our patient may be due to a rare autosomal dominant mutation with possible gonadal mosaicism and with variable expression in the family, as limb anomaly in one child and cyanotic congenital heart disease in another child
American Psychological Association (APA)
Shawqi, Rabah M.& Abd al-Khaliq, Hibah Salah& Jad, Shayma& Muhammad, Shayma Abd al-Sattar. 2014. Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child-probable FFU syndrome. The Egyptian Journal of Medical Human Genetics،Vol. 15, no. 3, pp.299-303.
https://search.emarefa.net/detail/BIM-388614
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child-probable FFU syndrome. The Egyptian Journal of Medical Human Genetics Vol. 15, no. 3 (Jul. 2014), pp.299-303.
https://search.emarefa.net/detail/BIM-388614
American Medical Association (AMA)
Shawqi, Rabah M.& Abd al-Khaliq, Hibah Salah& Jad, Shayma& Muhammad, Shayma Abd al-Sattar. Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child-probable FFU syndrome. The Egyptian Journal of Medical Human Genetics. 2014. Vol. 15, no. 3, pp.299-303.
https://search.emarefa.net/detail/BIM-388614
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 302-303
Record ID
BIM-388614