Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child – Probable FFU syndrome
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 h...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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SpringerOpen
2014-07-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1110863014000500 |
| _version_ | 1818555515540602880 |
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| author | Rabah M. Shawky Heba Salah Abd Elkhalek Shaimaa Gad Shaimaa Abdelsattar Mohammad |
| author_facet | Rabah M. Shawky Heba Salah Abd Elkhalek Shaimaa Gad Shaimaa Abdelsattar Mohammad |
| author_sort | Rabah M. Shawky |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-12T09:54:27Z |
| format | Article |
| id | doaj.art-f68c9f86efd9423e8d6a9bc876b75710 |
| institution | Directory Open Access Journal |
| issn | 1110-8630 |
| language | English |
| last_indexed | 2024-12-12T09:54:27Z |
| publishDate | 2014-07-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj.art-f68c9f86efd9423e8d6a9bc876b757102022-12-22T00:28:11ZengSpringerOpenEgyptian Journal of Medical Human Genetics1110-86302014-07-0115329930310.1016/j.ejmhg.2014.03.001Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child – Probable FFU syndromeRabah M. Shawky0Heba Salah Abd Elkhalek1Shaimaa Gad2Shaimaa Abdelsattar Mohammad3Pediatric Department, Genetics Unit, Ain Shams University, EgyptPediatric Department, Genetics Unit, Ain Shams University, EgyptPediatric Department, Genetics Unit, Ain Shams University, EgyptRadio Diagnosis Department, Ain Shams University, EgyptWe 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.http://www.sciencedirect.com/science/article/pii/S1110863014000500Short femurLimb anomalyFFU syndromeProximal focal femoral deficiencyFibular aplasiaTibial campomeliaOligosyndactyly |
| spellingShingle | Rabah M. Shawky Heba Salah Abd Elkhalek Shaimaa Gad Shaimaa Abdelsattar Mohammad Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child – Probable FFU syndrome Egyptian Journal of Medical Human Genetics Short femur Limb anomaly FFU syndrome Proximal focal femoral deficiency Fibular aplasia Tibial campomelia Oligosyndactyly |
| title | Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child – Probable FFU syndrome |
| title_full | Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child – Probable FFU syndrome |
| title_fullStr | Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child – Probable FFU syndrome |
| title_full_unstemmed | Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child – Probable FFU syndrome |
| title_short | Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child – Probable FFU syndrome |
| title_sort | unilateral proximal focal femoral deficiency fibular aplasia tibial campomelia and oligosyndactyly in an egyptian child probable ffu syndrome |
| topic | Short femur Limb anomaly FFU syndrome Proximal focal femoral deficiency Fibular aplasia Tibial campomelia Oligosyndactyly |
| url | http://www.sciencedirect.com/science/article/pii/S1110863014000500 |
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