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 2017-07-19  Case of the week # 454  © Islam Badr
Answer to the case of the week # 454
September 14, 2017 - September 28, 2017

Islam Badr, M.Sc.*; Rasha Kamel, MD*; Mohamed Ashmawy, M.Sc**, Omama Taher M.Sc.*, Sameh Abdel Latif Abdel Salam, MD***
* Fetal Medicine Unit, Cairo University, Egypt;** Dekernes General Hospital
*** Radiology Department, Kasr Alainy Hospitals, Cairo University, Egypt.
Case report

A 23-year-old pregnant lady was referred to our unit at 22 weeks of gestation. The non-consanguineous couple had no history of congenital malformations either in their children or their families. Our ultrasound examination revealed the following findings:

- Bilateral brachial amelia (absence of all the rhizomelic, mesomelic and acromelic segments of both upper limbs)
- Bilateral extremely severe femur hypoplasia
- Right fibular hemiamelia (absence of right fibula)
- Hypoplastic right tibia
- Both left tibia and left fibula were normal and their lengths were within the normal range for GA
- No anomalies were noted in toes especially in the right fibular side
- A thorough anatomy scan failed to revealed any other associated anomalies

Based on this asymmetric specific pattern of malformations of the limbs which is not associated with internal malformations; our diagnosis was Femur-fibula-ulna complex group IV. Counseling with parents was performed and they decided to continue the pregnancy. 

Videos 1 and 2: show the absence of both upper limbs. Both clavicle and scapula are present on both sides with absence of all the rhizomelic, the mesomelic and the acromelic segments of both upper limbs.


Images 1-4 and videos 3 and 4: surface rendering of the fetal shoulders showing the bilateral brachial amelia.


Images 5 and 6, video 5:
 maximum-mode rendering of both shoulders confirming the brachial amelia.


Videos 6, 7 and 8:
 demonstrate the presence of both tibia and fibula on the left side and the right fibular hemiamelia.


Images 7 and 8:
 surface rendering and maximum-mode rendering of both lower limbs. The maximum-mode rendering image demonstrates the presence of both tibia and fibula on the left side and the presence of only tibia on the right side due to fibular hemiamelia.


Image 9:
 measurements of bones of the lower limbs demonstrating that both left tibia and fibula are within the normal range for GA. However the right tibia is hypoplastic as shown by the curve.

Videos 9-14:
 show the normal anatomy in CNS, face, heart, kidneys and spine.


Images 10 and 11: Postnatal image of the fetus and X-ray done at the age of 10 months old.


Femur-fibula-ulna (FFU) complex term was initially used to describe cases with associated defects in femur, fibula and/or ulna and later extended to cases with defects in fibula or ulna alone 1Femur-fibula-ulna Complex is also characterized by rare anomalies of upper limbs such as amelia and these anomalies are frequently encountered in cases of FFU complex and are sometimes important clues to the diagnosis 1,2

Limb malformations in 
Femur-fibula-ulna complex are asymmetric either in presence or in degree and usually unilateral1,3. The defect of the lower limb is usually on the contralateral side of the affected upper limb 3. The defect of femur in Femur-fibula-ulna complex is homologous to the proximal focal femoral deficiency 2.3. The upper limbs, the right side and the male sex are preferentially affected in Femur-fibula-ulna complex 1,2,3.  

The process of differential diagnosis should be an easy process due to a specificity in the pattern of limb malformations including a femoral defect in association with an upper limb defect hence an overlap with other limb malformations is virtually non-exsisting

The absence of internal malformations is an important clue for the diagnosis of 
Femur-fibula-ulna complex and is helpful in the process of differential diagnosis e.g. differentiating it from familial tetraamelia1,2Femur-fibula-ulna complex is not lethal with normal intelligence and life expectancy hence the severity of the malformations of the limbs is usually the main prognostic determinant 2,4

The etiology of 
Femur-fibula-ulna complex is unknown with no environmental or other factors identified and the genetic component is unclear complicating the process of genetic counseling1,2,3. Recurrence and transmission from parents to their offspring or increased incidence in consanguineous couples are not reported 1,2,3

The differential diagnosis of 
Femur-fibula-ulna complex includes focal dermal hypoplasia, amniotic band syndrome, proximal focal femoral deficiency (PFFD) and femoral-facies syndrome 3,4­,5­­. In proximal focal femoral deficiency which is unilateral in 85-90% of cases, the femur is variably short most commonly with sparing of other long bones and it is not usually accompanied with other anomalies 5. FATCO syndrome as the name implies is consisting of Fibular Aplasia, Tibial Campomelia and Oligosyndactyly and is usually associated with dimpling in the overlying soft tissue at the point where the proximal two thirds meets with the lower one third of the leg 6. In FATCO syndrome the femur is spared and is usually straight accompanied by also sparing of radius and humerus 6. Lenz et al. studies 491 cases of Femur-fibula-ulna complex and divided them into four principle groups according to the number of the affected limbs into group I, II, III and IV in which one, two, three and four limbs are affected respectively 1. Although there is an overall male predominance; in group IV to which our case belongs there is nearly equal affection 1.                    

1. Lenz W, Zygulska M, Horst J. FFU complex: an analysis of 491 cases. Hum Genet 1993; 91: 347-356
2. Geniets C, Vanhoenacker F, Blaumeiser B, Parizel PM. Femur-fibula-ulna complex. JBT-BRT 2006; 89:130-131
3. Zamani AG, Yildirim MS, Karalezli N. The femur-fibula-ulna (FFU) complex: Does it need genetic counseling? Med Genet 2015; 1:33-35
4. Geipel A, Berg C, Germer U, Krokowsk M, Smrcek J, Gembruch U. Prenatal diagnosis of femur-fibula-ulna complex by ultrasound examination at 20 weeks  of gestation. Ultrasound Obstet Gynecol 2003; 22:79-81
5. Goncalves LF, De Luca GR, Vitorello DA, Parente LM, Philippe H, Saab Neto JA, Pereira ET. Prenatal diagnosis of bilateral proximal femoral hypoplasia. Ultrasound Obstet Gynecol 1996; 8:127-130
6. Bastaki LA, Al-Hathal M, Sadik DI, Alrohaif HE, Yousef HY, Khallaf MG. A case report of FATCO syndrome: fibular aplasia, tibial campomelia and oligosyndactyly. Middle East J Med Genet 2015; 5:28-30


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